Non‑syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene
| Autor: | Davide Colavito, Elda Del Giudice, M. Mazzarolo, Veronica Maritan, Alberta Leon, Sofia Farina, Stefania Miotto, Stefano Piermarocchi, Maurizio Dalle Carbonare, Agnese Suppiej |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Ataxia Protein subunit Biology medicine.disease_cause General Biochemistry Genetics and Molecular Biology NO 03 medical and health sciences spinocerebellar ataxia-28 0302 clinical medicine Atrophy medicine AFG3 like matrix AAA peptidase subunit 2 ataxia exome sequencing optic atrophy General Pharmacology Toxicology and Pharmaceutics Gene Exome sequencing Genetics Mutation General Neuroscience General Medicine Articles medicine.disease Molecular biology Hereditary Optic Atrophy 030104 developmental biology Spinocerebellar ataxia medicine.symptom 030217 neurology & neurosurgery |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|