{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T06:10:23Z","timestamp":1789193423629,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,4,8]],"date-time":"2016-04-08T00:00:00Z","timestamp":1460073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR11\u201024"],"award-info":[{"award-number":["W.OR11\u201024"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Moroccan girl of consanguineous parents with optic atrophy and cerebellar atrophy. Exome sequencing revealed a novel homozygous mutation (c.283+3G<\/jats:styled-content>>T) in the donor splice site for exon 1 of SLC25A46<\/jats:styled-content>.<\/jats:italic> RNA<\/jats:styled-content> analysis revealed that an alternative splice site within exon 1 was used leading to a premature termination codon within exon 2. SLC25A46<\/jats:styled-content><\/jats:italic> mRNA<\/jats:styled-content> expression showed there is no wild\u2010type transcript present in the patient and the mutant transcript does not undergo nonsense\u2010mediated mRNA<\/jats:styled-content> decay. Futhermore, we observed c.283+3G<\/jats:styled-content>>T SLC25A46<\/jats:styled-content><\/jats:italic> mutation induces mitochondrial fragmentation. An additional 10 patients with optic atrophy and cerebellar atrophy, which were negative for mtDNA<\/jats:styled-content> and OPA1<\/jats:styled-content><\/jats:italic> variants, were tested for pathogenic mutations in the SLC25A46<\/jats:styled-content><\/jats:italic> gene. However, no additional variants were identified. Our findings confirm the recent report of pathogenic SLC25A46<\/jats:styled-content><\/jats:italic> mutations as a novel cause for optic atrophy spectrum disorder.<\/jats:p>","DOI":"10.1111\/cge.12774","type":"journal-article","created":{"date-parts":[[2016,3,8]],"date-time":"2016-03-08T06:34:36Z","timestamp":1457418876000},"page":"121-125","source":"Crossref","is-referenced-by-count":39,"title":["Novel pathogenic SLC25A46<\/scp><\/i> splice\u2010site mutation causes an optic atrophy spectrum disorder"],"prefix":"10.1111","volume":"91","author":[{"given":"M.","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Unit Clinical Genomics Maastricht University Medical Centre Maastricht The Netherlands"},{"name":"School for Oncology and Developmental Biology (GROW) Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Boesten","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Unit Clinical Genomics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. M. E. I.","family":"Hellebrekers","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Unit Clinical Genomics Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. M.","family":"Mulder\u2010den Hartog","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. F. M.","family":"de Coo","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. J. M.","family":"Smeets","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Unit Clinical Genomics Maastricht University Medical Centre Maastricht The Netherlands"},{"name":"School for Oncology and Developmental Biology (GROW) Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gerards","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Unit Clinical Genomics Maastricht University Medical Centre Maastricht The Netherlands"},{"name":"School for Oncology and Developmental Biology (GROW) Maastricht University Medical Centre Maastricht The Netherlands"},{"name":"Maastricht Center for Systems Biology (MaCSBio) Maastricht University Medical Centre Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm298"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054270"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-010-0365-z"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31455"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3354"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.158"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2010.05.008"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M808515200"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2012.05.005"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12774","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12774","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12774","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:08:15Z","timestamp":1696291695000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,8]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1111\/cge.12774"],"URL":"https:\/\/doi.org\/10.1111\/cge.12774","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,8]]}}}