{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:03Z","timestamp":1791928803756,"version":"4.3.4"},"reference-count":34,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"10","license":[{"start":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T00:00:00Z","timestamp":1663027200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2022,9,13]]},"DOI":"10.1167\/iovs.63.10.9","type":"journal-article","created":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T11:41:12Z","timestamp":1663069272000},"page":"9","source":"Crossref","is-referenced-by-count":12,"title":["Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings"],"prefix":"10.1167","volume":"63","author":[{"given":"Xin","family":"Zhang","sequence":"first","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Xie","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Xu","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoyu","family":"Chang","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab. Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/ejhg.2016.49","article-title":"Clinical utility gene card for: Wolfram syndrome","volume":"11","author":"Moosajee","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1038\/s41390-019-0487-4","article-title":"Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations","volume":"87","author":"Rigoli","year":"2020","journal-title":"Pediatr Res"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s40618-013-0039-4","article-title":"Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected","volume":"37","author":"Lombardo","year":"2014","journal-title":"J Endocrinol Invest"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1111\/dme.2011.28.issue-11","article-title":"Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India","volume":"28","author":"Ganie","year":"2011","journal-title":"Diabet Med"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"1458","DOI":"10.1016\/S0140-6736(95)92473-6","article-title":"Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome","volume":"346","author":"Barrett","year":"1995","journal-title":"Lancet"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"e106906","DOI":"10.1371\/journal.pone.0106906","article-title":"Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features","volume":"9","author":"Matsunaga","year":"2014","journal-title":"PLoS One"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1038\/2441","article-title":"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)","volume":"20","author":"Inoue","year":"1998","journal-title":"Nat Genet"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1093\/hmg\/10.5.477","article-title":"WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain","volume":"10","author":"Takeda","year":"2001","journal-title":"Hum Mol Genet"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.1093\/hmg\/ddg214","article-title":"Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product","volume":"12","author":"Hofmann","year":"2003","journal-title":"Hum Mol Genet"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1038\/gim.2012.180","article-title":"Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype","volume":"15","author":"de Heredia","year":"2013","journal-title":"Genet Med"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.2337\/diacare.27.8.2003","article-title":"Phenotype-genotype correlations in a series of wolfram syndrome families","volume":"27","author":"Smith","year":"2004","journal-title":"Diabetes Care"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1111\/cge.2015.87.issue-5","article-title":"Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders","volume":"87","author":"Chaussenot","year":"2015","journal-title":"Clin Genet"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1016\/j.gene.2012.06.077","article-title":"A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype","volume":"509","author":"Elli","year":"2012","journal-title":"Gene"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"e0193359","DOI":"10.1371\/journal.pone.0193359","article-title":"WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis","volume":"13","author":"Kobayashi","year":"2018","journal-title":"PLoS One"},{"key":"bib16","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1002\/ajmg.a.33970","article-title":"Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment","volume":"155a","author":"Rendtorff","year":"2011","journal-title":"Am J Med Genet. A"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1007\/s13258-021-01096-x","article-title":"Comparison between MGI and Illumina sequencing platforms for whole genome sequencing","volume":"43","author":"Jeon","year":"2021","journal-title":"Genes Genomics"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1186\/s12859-020-03859-x","article-title":"Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms","volume":"21","author":"Rao","year":"2020","journal-title":"BMC Bioinformatics"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1038\/nrg.2015.25","article-title":"Mechanisms underlying structural variant formation in genomic disorders","volume":"17","author":"Carvalho","year":"2016","journal-title":"Nat Rev Genet"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"1751","DOI":"10.1038\/s41436-018-0414-9","article-title":"Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides","volume":"21","author":"Sangermano","year":"2019","journal-title":"Genet Med"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1093\/nar\/gkh273","article-title":"Analysis and recognition of 5' UTR intron splice sites in human pre-mRNA","volume":"32","author":"Eden","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1038\/ng780","article-title":"Computational identification of promoters and first exons in the human genome","volume":"29","author":"Davuluri","year":"2001","journal-title":"Nat Genet"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"1989","DOI":"10.1016\/j.ophtha.2016.05.036","article-title":"WFS1 in optic neuropathies: mutation findings in nonsyndromic optic atrophy and assessment of clinical severity","volume":"123","author":"Grenier","year":"2016","journal-title":"Ophthalmology"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1016\/j.jaapos.2014.07.162","article-title":"Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome","volume":"18","author":"Hoekel","year":"2014","journal-title":"J AAPOS"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1177\/1120672119842489","article-title":"Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome","volume":"30","author":"Ustaoglu","year":"2020","journal-title":"Eur J Ophthalmol"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"1538","DOI":"10.1016\/j.ophtha.2009.12.038","article-title":"The prevalence and natural history of dominant optic atrophy due to OPA1 mutations","volume":"117","author":"Yu-Wai-Man","year":"2010","journal-title":"Ophthalmology"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"6987","DOI":"10.1167\/iovs.14-14953","article-title":"Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy","volume":"55","author":"Chen","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/(ISSN)1552-4833","article-title":"Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome","volume":"143a","author":"Cano","year":"2007","journal-title":"Am J Med Genet A"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.diabres.2005.12.007","article-title":"A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies","volume":"73","author":"Nakamura","year":"2006","journal-title":"Diabetes Res Clin Pract"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1111\/cen.2011.75.issue-5","article-title":"Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation","volume":"75","author":"Zmyslowska","year":"2011","journal-title":"Clin Endocrinol (Oxf)"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s12020-009-9145-7","article-title":"The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family","volume":"35","author":"Hong","year":"2009","journal-title":"Endocrine"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"2021","DOI":"10.1093\/hmg\/7.13.2021","article-title":"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein","volume":"7","author":"Strom","year":"1998","journal-title":"Hum Mol Genet"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1002\/humu.23233","article-title":"Monogenic diabetes syndromes: Locus-specific databases for Alstr\u00f6m, Wolfram, and Thiamine-responsive megaloblastic anemia","volume":"38","author":"Astuti","year":"2017","journal-title":"Hum Mutat"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1530\/EJE-08-0698","article-title":"Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome","volume":"160","author":"Gasparin","year":"2009","journal-title":"Eur J Endocrinol"},{"key":"bib7","article-title":"WFS1 Wolfram syndrome spectrum disorder","volume-title":"GeneReviews","author":"Tranebj\u00e6rg","year":"1993"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2783640","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:37Z","timestamp":1791927097000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2783640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,13]]},"references-count":34,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,9,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.63.10.9","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9,13]]}}}