肝脑型线粒体DNA缺失综合征的新脱氧鸟苷激酶基因突变

• 作 者: Mancuso M. Ferraris S. Pancrudo J. S.DiMauro 高中宝
• 机 构: Columbia University College of Physicians and Surgeons 630 W 168th St New York NY 10032 United Stat
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2005年09期
• 关键词: 脱氧鸟苷 基因突变 脑型 激酶 缺失 综合征 线粒体 眼球震颤 纯合子 小头畸形

Objective: To document novel homozygous mutations in the gene for deoxyguanosi ne kinase (DGK) in 3 children with mitochondrial DNA depletion. Design: Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and li ver cirrhosis, optic dysplasia, nystagmus, and microcephaly in the third patient . We sequenced the whole coding region of the DGK gene. Results: We identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins. C onclusion: These data confirm that DGK mutations typically affect the liver and brain.

Objective: To document novel homozygous mutations in the gene for deoxyguanosine kinase (DGK) in 3 children with mitochondrial DNA depletion. Design: Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and li ver cirrhosis, optic dysplasia, nystagmus , and microcephaly in the third patient. We sequenced the whole coding region of the DGK gene. Results: We identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins. C onclusion: These data confirm that DGK alternately typically affects the liver and brain.