Non‑syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene

Colavito,Davide; Maritan,Veronica; Suppiej,Agnese; Del Giudice,Elda; Mazzarolo,Monica; Miotto,Stefania; Farina,Sofia; Dalle Carbonare,Maurizio; Piermarocchi,Stefano; Leon,Alberta

doi:10.3892/br.2017.987

Non‑syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene

Authors:
- Davide Colavito
- Veronica Maritan
- Agnese Suppiej
- Elda Del Giudice
- Monica Mazzarolo
- Stefania Miotto
- Sofia Farina
- Maurizio Dalle Carbonare
- Stefano Piermarocchi
- Alberta Leon
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Affiliations: 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
Published online on: September 22, 2017 https://doi.org/10.3892/br.2017.987
Pages: 451-454

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Abstract

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.

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