TY - JOUR AB - Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter‑ and intra‑familial clinical variability. Although a number of mutations in different genes are now known to cause DOA, many cases remain undiagnosed. In an attempt to identify the underlying genetic defect, whole exome sequencing was performed in a 19‑year‑old male that had been affected by isolated DOA since childhood. The exome sequencing revealed a pathogenic mutation (p.R468C, c.1402C>T) in the AFG3 like matrix AAA peptidase subunit 2 (AFG3L2) gene, a gene known to be associated with spinocerebellar ataxia. The patient did not show any signs other than DOA. Thus, the result demonstrates the possibility that mutations in the AFG3L2 gene may be a cause of isolated autosomal DOA. AD - Research and Innovation Srl, I-35127 Padua, Italy Paediatric Low Vision Center, Women's and Children's Health Department, University of Padua, I-35100 Padua, Italy Child Neurology and Clinical Neurophysiology Unit, Pediatric University Hospital of Padua, I-35100 Padua, Italy ULSS 6 Euganea, phthalmology Unit, Camposampiero Hospital, I-35012 Padua, Italy Neuroscience Department, University of Padua, I-35100 Padua, Italy AU - Colavito,Davide AU - Maritan,Veronica AU - Suppiej,Agnese AU - Del Giudice,Elda AU - Mazzarolo,Monica AU - Miotto,Stefania AU - Farina,Sofia AU - Dalle Carbonare,Maurizio AU - Piermarocchi,Stefano AU - Leon,Alberta DA - 2017/11/01 DO - 10.3892/br.2017.987 EP - 454 IS - 5 JO - Biomed Rep KW - optic atrophy AFG3 like matrix AAA peptidase subunit 2 ataxia spinocerebellar ataxia‑28 exome sequencing PY - 2017 SN - 2049-9434 2049-9442 SP - 451 ST - Non‑syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene T2 - Biomedical Reports TI - Non‑syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene UR - https://doi.org/10.3892/br.2017.987 VL - 7 ER -