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

被引：35

作者：

Mancuso, M

Ferraris, S

Pancrudo, J

Feigenbaum, A

Raiman, J

Christodoulou, J

Thorburn, DR

DiMauro, S

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Univ Pisa, Dept Neurosci, Pisa, Italy

[3] Univ Toronto, Toronto, ON, Canada

[4] Hosp Sick Children, Div Clin Genet & Metab, Toronto, ON M5G 1X8, Canada

[5] Royal Childrens Hosp, Murdoch Childrens Res Inst, Genet Hlth Serv Victoria, Melbourne, Vic, Australia

[6] Univ Melbourne, Dept Pediat, Melbourne, Vic, Australia

来源：

ARCHIVES OF NEUROLOGY | 2005年 / 62卷 / 05期

关键词：

D O I：

10.1001/archneur.62.5.745

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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, hypotoma, And nystagmus in 2 siblings, and liver 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. Conclusion: These data confirm that DGK mutations typically affect the liver and brain.

引用

页码：745 / 747

页数：3

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