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A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

✍ Scribed by Juanjuan Zhang; Yimin Yuan; Bing Lin; Hao Feng; Yan Li; Xianning Dai; Huihui Zhou; Xujie Dong; Xiao-Ling Liu; Min-Xin Guan


Book ID
116303082
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
588 KB
Volume
419
Category
Article
ISSN
0006-291X

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The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixtynine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain c