{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T15:07:15Z","timestamp":1768316835069,"version":"3.49.0"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p><jats:italic>SLC25A46<\/jats:italic> is a mitochondrial protein involved in mitochondrial dynamics. Recently, bi-allelic variants have been identified as a pathogenic cause in a spectrum of neurological syndromes. We report a novel homozygous <jats:italic>SLC25A46<\/jats:italic> variant in two siblings, originating from Iraq. Both presented with optic atrophy and varying neurological symptoms. The neurological examination and nerve conduction studies were consistent with sensorimotor polyneuropathy, one having mild polyneuropathy and the other pronounced polyneuropathy. The cases illustrate the disease spectrum and provide substantial information to the knowledge of polyneuropathy caused by <jats:italic>SLC25A46<\/jats:italic> variants. It further highlights the diagnostic potentials of whole exome sequencing which can improve future understanding of disease mechanisms.<\/jats:p>","DOI":"10.3389\/fneur.2022.1066040","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T05:10:08Z","timestamp":1670821808000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy"],"prefix":"10.3389","volume":"13","author":[{"given":"Louise Sloth","family":"Kodal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophia","family":"Hammer-Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Holm-Yildiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena G\u00e1sdal","family":"Karstensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Dysgaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,12,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/j.ygeno.2006.06.016","article-title":"Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system","volume":"88","author":"Haitina","year":"2006","journal-title":"Genomics."},{"key":"B2","doi-asserted-by":"publisher","first-page":"e1006656","DOI":"10.1371\/journal.pgen.1006656","article-title":"Novel insights into SLC25A46-related pathologies in a genetic mouse model","volume":"13","author":"Terzenidou","year":"2017","journal-title":"PLoS Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.15252\/emmm.201506159","article-title":"SLC 25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome","volume":"8","author":"Janer","year":"2016","journal-title":"EMBO Mol Med."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1002\/mds.26716","article-title":"SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy","volume":"31","author":"Charlesworth","year":"2016","journal-title":"Mov Disord."},{"key":"B5","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1111\/cge.12963i","article-title":"novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy","volume":"92","author":"Sulaiman","year":"2017","journal-title":"Clin Gen."},{"key":"B6","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1038\/ng.3354","article-title":"Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder","volume":"47","author":"Abrams","year":"2015","journal-title":"Nat Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1995","DOI":"10.1002\/humu.23639","article-title":"Insights into the genotype-phenotype correlation and molecular function of SLC25A46","volume":"39","author":"Abrams","year":"2018","journal-title":"Hum Mutat."},{"key":"B8","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med May."},{"key":"B9","unstructured":""}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.1066040\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T05:10:11Z","timestamp":1670821811000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.1066040\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,12]]},"references-count":9,"alternative-id":["10.3389\/fneur.2022.1066040"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2022.1066040","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,12]]},"article-number":"1066040"}}