New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome |
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Authors: | Mancuso Michelangelo Ferraris Silvio Pancrudo Jacklyn Feigenbaum Annette Raiman Julian Christodoulou John Thorburn David R DiMauro Salvatore |
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Affiliation: | Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. |
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Abstract: | 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 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. |
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