肝脑型线粒体DNA缺失综合征的新脱氧鸟苷激酶基因突变  

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

作　　者：Mancuso M. Ferraris S. Pancrudo J. S.DiMauro 高中宝 

机构地区：[1]Columbia University College of Physicians and Surgeons, 630 W 168th St, New York, NY 10032, United States,Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第9期18-18,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：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 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.

关 键 词：脱氧鸟苷 基因突变 脑型 DNA 眼球震颤 小头畸形 纯合子 发育异常 编码区 

分 类 号：R725.9[医药卫生—儿科]