{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T20:01:41Z","timestamp":1788897701074,"version":"build-2803163510"},"reference-count":90,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T00:00:00Z","timestamp":1723420800000},"content-version":"vor","delay-in-days":224,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT2009732"],"award-info":[{"award-number":["GNT2009732"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100025520","name":"Medical Research Future Fund","doi-asserted-by":"publisher","award":["MRF2007959"],"award-info":[{"award-number":["MRF2007959"]}],"id":[{"id":"10.13039\/501100025520","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG011744"],"award-info":[{"award-number":["U01HG011744"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["UM1HG006493"],"award-info":[{"award-number":["UM1HG006493"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007530"],"award-info":[{"award-number":["U01HG007530"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007942"],"award-info":[{"award-number":["U01HG007942"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["U24HG011746"],"award-info":[{"award-number":["U24HG011746"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["U54NS078059"],"award-info":[{"award-number":["U54NS078059"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["S10OD028538"],"award-info":[{"award-number":["S10OD028538"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG010233"],"award-info":[{"award-number":["U01HG010233"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007180","name":"Children&apos;s Hospital Colorado","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007180","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Rare"],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/j.rare.2024.100040","type":"journal-article","created":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T13:46:09Z","timestamp":1723643169000},"page":"100040","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts"],"prefix":"10.1016","volume":"2","author":[{"given":"Elizabeth E.","family":"Blue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel J.","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyna","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Golden-Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenna","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth A.","family":"Rosenthal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madelyn A.","family":"Gillentine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah R.","family":"Fleming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne","family":"Wolfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee","family":"Allworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikeisha J.","family":"Caruana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirisak","family":"Chanprasert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitsuh","family":"Dargie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa W.","family":"Friederich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuki M.","family":"Hisama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Horike-Pyne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica C.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tonia E.","family":"Donovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniella H.","family":"Hock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen A.","family":"Leppig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny E.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghayda","family":"Mirzaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Ranchalis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy H.","family":"Raskind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cole R.","family":"Michel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Reisdorph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schwarze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sam","family":"Sheppeard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Strohbehn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stroud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia P.","family":"Sybert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark H.","family":"Wener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B.","family":"Stergachis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina T.","family":"Lam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail P.","family":"Jarvik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina M.","family":"Dipple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan L.K.","family":"Van Hove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian A.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.rare.2024.100040_bib1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation","volume":"376","author":"Posey","year":"2017","journal-title":"N. Engl. J. Med"},{"key":"10.1016\/j.rare.2024.100040_bib2","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.rare.2024.100040_bib3","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/cge.12987","article-title":"Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing","volume":"92","author":"Balci","year":"2017","journal-title":"Clin. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib4","first-page":"2199","article-title":"A retrospective review of multiple findings in diagnostic exome sequencing","volume":"21","author":"Smith","year":"2019","journal-title":"half are Distinct. half are overlapping Diagn.. Genet Med"},{"key":"10.1016\/j.rare.2024.100040_bib5","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","article-title":"Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications","volume":"32","author":"Chen","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.rare.2024.100040_bib6","article-title":"Scaling accurate genetic variant discovery to tens of thousands of samples","author":"Poplin","year":"2017","journal-title":"bioRxiv"},{"key":"10.1016\/j.rare.2024.100040_bib7","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib8","doi-asserted-by":"crossref","first-page":"R84","DOI":"10.1186\/gb-2014-15-6-r84","article-title":"LUMPY: a probabilistic framework for structural variant discovery","volume":"15","author":"Layer","year":"2014","journal-title":"Genome Biol."},{"key":"10.1016\/j.rare.2024.100040_bib9","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1038\/s41436-020-01084-8","article-title":"Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases","volume":"23","author":"Kobren","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.rare.2024.100040_bib10","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.ajhg.2017.01.017","article-title":"Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.","volume":"100","author":"Pedersen","year":"2017","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1003153","article-title":"GEMINI: integrative exploration of genetic variation and genome annotations","volume":"9","author":"Paila","year":"2013","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.rare.2024.100040_bib12","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"1000 Genomes Project Consortium","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.rare.2024.100040_bib13","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.rare.2024.100040_bib14","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","article-title":"Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program","volume":"590","author":"Taliun","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.rare.2024.100040_bib15","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/nature14962","article-title":"The UK10K project identifies rare variants in health and disease","volume":"526","author":"UK10K Consortium","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.rare.2024.100040_bib16","doi-asserted-by":"crossref","first-page":"W39","DOI":"10.1093\/nar\/gkad426","article-title":"The AnnotSV webserver in 2023: updated visualization and ranking","volume":"51","author":"Geoffroy","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.rare.2024.100040_bib17","doi-asserted-by":"crossref","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","article-title":"AnnotSV: an integrated tool for structural variations annotation","volume":"34","author":"Geoffroy","year":"2018","journal-title":"Bioinformatics"},{"key":"10.1016\/j.rare.2024.100040_bib18","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.rare.2024.100040_bib19","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/bs.mcb.2019.11.007","article-title":"Assessment of mitochondrial respiratory chain enzymes in cells and tissues","volume":"155","author":"Frazier","year":"2020","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.rare.2024.100040_bib20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mito.2014.12.005","article-title":"Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing","volume":"21","author":"Chatfield","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.rare.2024.100040_bib21","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1136\/jmedgenet-2015-103049","article-title":"Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder","volume":"52","author":"Coughlin","year":"2015","journal-title":"J. Med Genet"},{"key":"10.1016\/j.rare.2024.100040_bib22","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1203\/00006450-200111000-00020","article-title":"Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects","volume":"50","author":"Van Coster","year":"2001","journal-title":"Pedia Res"},{"key":"10.1016\/j.rare.2024.100040_bib23","first-page":"702","article-title":"Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly","volume":"26","author":"Friederich","year":"2017","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib24","doi-asserted-by":"crossref","first-page":"3328","DOI":"10.1210\/clinem\/dgac528","article-title":"Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights","volume":"107","author":"Tucker","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.rare.2024.100040_bib25","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/978-1-4939-7493-1_7","article-title":"Perseus: A Bioinformatics Platform for Integrative Analysis of Proteomics Data in Cancer Research","volume":"1711","author":"Tyanova","year":"2018","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.rare.2024.100040_bib26","doi-asserted-by":"crossref","first-page":"D1541","DOI":"10.1093\/nar\/gkaa1011","article-title":"MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations","volume":"49","author":"Rath","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.rare.2024.100040_bib27","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1001025","article-title":"Identifying a high fraction of the human genome to be under selective constraint using GERP++","volume":"6","author":"Davydov","year":"2010","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.rare.2024.100040_bib28","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","article-title":"CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores","volume":"13","author":"Rentzsch","year":"2021","journal-title":"Genome Med"},{"key":"10.1016\/j.rare.2024.100040_bib29","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ajhg.2019.12.005","article-title":"Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis","volume":"106","author":"Gusic","year":"2020","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib30","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.bbamcr.2008.06.004","article-title":"Respiratory-chain diseases related to complex III deficiency","volume":"1793","author":"Benit","year":"2009","journal-title":"Biochim Biophys. Acta"},{"key":"10.1016\/j.rare.2024.100040_bib31","doi-asserted-by":"crossref","first-page":"6936","DOI":"10.1111\/febs.16164","article-title":"The mitochondrial coenzyme Q junction and complex III: biochemistry and pathophysiology","volume":"289","author":"Banerjee","year":"2022","journal-title":"FEBS J."},{"key":"10.1016\/j.rare.2024.100040_bib32","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21165822","article-title":"Connexin Mutants Compromise the Lens Circulation and Cause Cataracts through Biomineralization","volume":"21","author":"Berthoud","year":"2020","journal-title":"Int J. Mol. Sci."},{"key":"10.1016\/j.rare.2024.100040_bib33","doi-asserted-by":"crossref","first-page":"3196","DOI":"10.1167\/iovs.04-0194","article-title":"Connexin50 is essential for normal postnatal lens cell proliferation","volume":"45","author":"Sellitto","year":"2004","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.rare.2024.100040_bib34","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/humu.22948","article-title":"Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing","volume":"37","author":"Ma","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.rare.2024.100040_bib35","first-page":"1141","article-title":"Mutational screening of Indian families with hereditary congenital cataract","volume":"19","author":"Ponnam","year":"2013","journal-title":"Mol. Vis."},{"key":"10.1016\/j.rare.2024.100040_bib36","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2007.050138","article-title":"Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract","volume":"44","author":"Ponnam","year":"2007","journal-title":"J. Med Genet"},{"key":"10.1016\/j.rare.2024.100040_bib37","first-page":"851","article-title":"A novel GJA8 mutation causing a recessive triangular cataract","volume":"14","author":"Schmidt","year":"2008","journal-title":"Mol. Vis."},{"key":"10.1016\/j.rare.2024.100040_bib38","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.rare.2024.100040_bib39","doi-asserted-by":"crossref","first-page":"20427","DOI":"10.1074\/jbc.M113.452847","article-title":"A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor","volume":"288","author":"Minogue","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.rare.2024.100040_bib40","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.fob.2012.11.005","article-title":"A cataract-causing connexin 50 mutant is mislocalized to the ER due to loss of the fourth transmembrane domain and cytoplasmic domain","volume":"3","author":"Somaraju Chalasani","year":"2013","journal-title":"FEBS Open Bio"},{"key":"10.1016\/j.rare.2024.100040_bib41","doi-asserted-by":"crossref","first-page":"4503","DOI":"10.1091\/mbc.e11-05-0438","article-title":"Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels","volume":"22","author":"Chai","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.rare.2024.100040_bib42","doi-asserted-by":"crossref","first-page":"5714","DOI":"10.1167\/iovs.16-19698","article-title":"Identification and Functional Assessment of Age-Dependent Truncations to Cx46 and Cx50 in the Human Lens","volume":"57","author":"Slavi","year":"2016","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.rare.2024.100040_bib43","doi-asserted-by":"crossref","DOI":"10.1016\/j.carpath.2021.107371","article-title":"Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report","volume":"54","author":"Fnon","year":"2021","journal-title":"Cardiovasc Pathol."},{"key":"10.1016\/j.rare.2024.100040_bib44","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.201900353","article-title":"PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes","volume":"2","author":"Zhao","year":"2019","journal-title":"Life Sci. Alliance"},{"key":"10.1016\/j.rare.2024.100040_bib45","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2014.12.013","article-title":"CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder","volume":"96","author":"Wortmann","year":"2015","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib46","first-page":"1285","article-title":"Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome","volume":"35","author":"Schwartzentruber","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.rare.2024.100040_bib47","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.ajhg.2009.04.004","article-title":"The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency","volume":"84","author":"Di Fonzo","year":"2009","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib48","article-title":"Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease","volume":"22","author":"McElnea","year":"2021","journal-title":"Am. J. Ophthalmol. Case Rep."},{"key":"10.1016\/j.rare.2024.100040_bib49","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1167\/iovs.04-1364","article-title":"In vivo and in vitro expression of connexins in the human corneal epithelium","volume":"46","author":"Shurman","year":"2005","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.rare.2024.100040_bib50","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/cge.13045","article-title":"New mutations in GJA8 expand the phenotype to include total sclerocornea","volume":"93","author":"Ma","year":"2018","journal-title":"Clin. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib51","doi-asserted-by":"crossref","first-page":"40724","DOI":"10.1074\/jbc.M110.159608","article-title":"Mutations in mitochondrial complex III uniquely affect complex I in Caenorhabditis elegans","volume":"285","author":"Suthammarak","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.rare.2024.100040_bib52","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1056\/NEJMoa055262","article-title":"Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome","volume":"356","author":"Hinson","year":"2007","journal-title":"N. Engl. J. Med"},{"issue":"Pt 1","key":"10.1016\/j.rare.2024.100040_bib53","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/brain\/123.1.82","article-title":"The spectrum of hearing loss due to mitochondrial DNA defects","volume":"123","author":"Chinnery","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.rare.2024.100040_bib54","first-page":"1001","article-title":"The Q-cycle reviewed: How well does a monomeric mechanism of the bc(1) complex account for the function of a dimeric complex? Biochim Biophys Acta","volume":"1777","author":"Crofts","year":"2008"},{"key":"10.1016\/j.rare.2024.100040_bib55","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1016\/j.bbabio.2012.11.008","article-title":"Structural analysis of cytochrome bc1 complexes: implications to the mechanism of function","volume":"1827","author":"Xia","year":"2013","journal-title":"Biochim Biophys. Acta"},{"key":"10.1016\/j.rare.2024.100040_bib56","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/s41580-021-00415-0","article-title":"The assembly, regulation and function of the mitochondrial respiratory chain","volume":"23","author":"Vercellino","year":"2022","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.rare.2024.100040_bib57","doi-asserted-by":"crossref","first-page":"233","DOI":"10.2174\/0929867043456151","article-title":"Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples","volume":"11","author":"Chretien","year":"2004","journal-title":"Curr. Med Chem."},{"key":"10.1016\/j.rare.2024.100040_bib58","doi-asserted-by":"crossref","first-page":"3523","DOI":"10.1016\/S0021-9258(17)41894-1","article-title":"The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria. Implications for our understanding of mitochondrial cytopathies in man","volume":"269","author":"Taylor","year":"1994","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.rare.2024.100040_bib59","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/0925-4439(93)90030-5","article-title":"Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain","volume":"1181","author":"Taylor","year":"1993","journal-title":"Biochim Biophys. Acta"},{"key":"10.1016\/j.rare.2024.100040_bib60","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0091-679X(01)65006-4","article-title":"Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues","volume":"65","author":"Birch-Machin","year":"2001","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.rare.2024.100040_bib61","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.molcel.2019.07.022","article-title":"Structures of Respiratory Supercomplex I+III(2) Reveal Functional and Conformational Crosstalk.","volume":"75","author":"Letts","year":"2019","journal-title":"Mol. Cell"},{"key":"10.1016\/j.rare.2024.100040_bib62","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2019102817","article-title":"Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV","volume":"39","author":"Protasoni","year":"2020","journal-title":"EMBO J."},{"key":"10.1016\/j.rare.2024.100040_bib63","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/S1097-2765(04)00124-8","article-title":"Respiratory complex III is required to maintain complex I in mammalian mitochondria","volume":"13","author":"Acin-Perez","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.rare.2024.100040_bib64","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1002\/acn3.51470","article-title":"Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease","volume":"8","author":"Hikmat","year":"2021","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.rare.2024.100040_bib65","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.mito.2010.05.009","article-title":"Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation","volume":"10","author":"Kotarsky","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1016\/j.rare.2024.100040_bib66","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/ajmg.a.61019","article-title":"Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships","volume":"179","author":"Baker","year":"2019","journal-title":"Am. J. Med Genet A"},{"key":"10.1016\/j.rare.2024.100040_bib67","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/s10038-021-00984-0","article-title":"BCS1L mutations produce Fanconi syndrome with developmental disability","volume":"67","author":"Kanako","year":"2022","journal-title":"J. Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib68","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.ajhg.2013.06.015","article-title":"Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia","volume":"93","author":"Gaignard","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib69","first-page":"57","article-title":"Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes","volume":"31","author":"Anastasio","year":"2017","journal-title":"JIMD Rep."},{"key":"10.1016\/j.rare.2024.100040_bib70","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1002\/ajmg.a.63143","article-title":"LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes","volume":"191","author":"Alfattal","year":"2023","journal-title":"Am. J. Med Genet A"},{"key":"10.1016\/j.rare.2024.100040_bib71","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13023-015-0254-5","article-title":"Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype","volume":"10","author":"Koch","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.rare.2024.100040_bib72","first-page":"115","article-title":"Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature","volume":"22","author":"Ardissone","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.rare.2024.100040_bib73","doi-asserted-by":"crossref","first-page":"8264","DOI":"10.1038\/srep08264","article-title":"Loss of alpha1,6-fucosyltransferase suppressed liver regeneration: implication of core fucose in the regulation of growth factor receptor-mediated cellular signaling","volume":"5","author":"Wang","year":"2015","journal-title":"Sci. Rep."},{"issue":"6","key":"10.1016\/j.rare.2024.100040_bib74","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1002\/ajmg.a.36968","article-title":"Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review","volume":"167","author":"Mordaunt","year":"2015","journal-title":"Am. J. Med Genet A"},{"key":"10.1016\/j.rare.2024.100040_bib75","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.spen.2018.04.003","article-title":"Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype","volume":"26","author":"Conboy","year":"2018","journal-title":"Semin Pedia Neurol."},{"key":"10.1016\/j.rare.2024.100040_bib76","doi-asserted-by":"crossref","first-page":"944","DOI":"10.3389\/fneur.2019.00944","article-title":"A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment","volume":"10","author":"Habibzadeh","year":"2019","journal-title":"Front Neurol."},{"key":"10.1016\/j.rare.2024.100040_bib77","doi-asserted-by":"crossref","first-page":"991","DOI":"10.4103\/aian.AIAN_625_20","article-title":"Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation","volume":"24","author":"Mahale","year":"2021","journal-title":"Ann. Indian Acad. Neurol."},{"key":"10.1016\/j.rare.2024.100040_bib78","doi-asserted-by":"crossref","DOI":"10.1111\/cns.14425","article-title":"A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review","volume":"30","author":"Xuan","year":"2024","journal-title":"CNS Neurosci. Ther."},{"key":"10.1016\/j.rare.2024.100040_bib79","doi-asserted-by":"crossref","first-page":"9230","DOI":"10.1038\/s41598-024-57942-x","article-title":"Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder","volume":"14","author":"Khan","year":"2024","journal-title":"Sci. Rep."},{"key":"10.1016\/j.rare.2024.100040_bib80","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004034","article-title":"Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression","volume":"9","author":"Tucker","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.rare.2024.100040_bib81","doi-asserted-by":"crossref","DOI":"10.1155\/2017\/7202589","article-title":"Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies","volume":"2017","author":"Feichtinger","year":"2017","journal-title":"Oxid. Med Cell Longev."},{"key":"10.1016\/j.rare.2024.100040_bib82","doi-asserted-by":"crossref","first-page":"6356","DOI":"10.1093\/hmg\/ddu357","article-title":"A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability","volume":"23","author":"Wanschers","year":"2014","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib83","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1007\/s00439-003-0946-0","article-title":"A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis","volume":"113","author":"Haut","year":"2003","journal-title":"Hum. Genet"},{"key":"10.1016\/j.rare.2024.100040_bib84","first-page":"382","article-title":"Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency]","volume":"34","author":"Zhang","year":"2017","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.rare.2024.100040_bib85","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1159\/000517761","article-title":"A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant","volume":"13","author":"Koc Yekeduz","year":"2022","journal-title":"Mol. Syndr."},{"key":"10.1016\/j.rare.2024.100040_bib86","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2021.166147","article-title":"Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control","volume":"1867","author":"Burska","year":"2021","journal-title":"Biochim Biophys. Acta Mol. Basis Dis."},{"key":"10.1016\/j.rare.2024.100040_bib87","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/humu.22257","article-title":"Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation","volume":"34","author":"Miyake","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.rare.2024.100040_bib88","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.mito.2022.12.001","article-title":"UQCRC2-related mitochondrial complex III deficiency, about 7 patients","volume":"68","author":"Bansept","year":"2023","journal-title":"Mitochondrion"},{"key":"10.1016\/j.rare.2024.100040_bib89","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202114397","article-title":"Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes","volume":"13","author":"Vidali","year":"2021","journal-title":"EMBO Mol. Med"},{"key":"10.1016\/j.rare.2024.100040_bib90","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1016\/j.ajhg.2008.03.020","article-title":"Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ","volume":"82","author":"Barel","year":"2008","journal-title":"Am. J. Hum. Genet"}],"container-title":["Rare"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2950008724000231?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2950008724000231?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T02:12:19Z","timestamp":1762654339000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2950008724000231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":90,"alternative-id":["S2950008724000231"],"URL":"https:\/\/doi.org\/10.1016\/j.rare.2024.100040","relation":{},"ISSN":["2950-0087"],"issn-type":[{"value":"2950-0087","type":"print"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts","name":"articletitle","label":"Article Title"},{"value":"Rare","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rare.2024.100040","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"100040"}}