OPA3基因突变导致视神经萎缩、白内障和锥体外路径病症

• 作 者: Verny C. Amati-Bonneau P. Dubas F. 司冰心
• 机 构: D′epartement de Neurologie Centre Hospitalier Universitaire H? otel-Dieu 4 rue Larrey 49933 Angers
• 出 处: 世界核心医学期刊文摘.眼科学分册
• 发表日期: 2005年09期
• 关键词: 白内障 视神经萎缩 基因突变 锥体 病症 路径 Sjogren 家族性疾病 核基因 共济失调

Introduction. In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sj gren syndrome and Friedreich’s ataxia. Method. This family was followed over a period of 40 years and genes known to be responsible for optic atrophy were sequenced. Results. The G277A mutation of OPA3 gene was responsible for this familial disease. Discussion. A new clinical entity is identified: autosomal dominant optic atrophy and cataract, due to a heterozygous mutation of the OPA3 gene, a nuclear gene encoding a mitochondrial protein.

Introduction. In 1961, Garcin et al. Described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believe this condition to be distinct from other diseases known at that time, eg the Behr syndrome, Marinesco- The family was followed over a period of 40 years and genes known to be responsible for optic atrophy were sequenced. Results. The G277A mutation of OPA3 gene was responsible for this familial disease. Discussion. A new clinical entity is identified: autosomal dominant optic atrophy and cataract, due to a heterozygous mutation of the OPA3 gene, a nuclear gene encoding a mitochondrial protein.