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.
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.
Authors: Elisabeth De Greef; John Christodoulou; Ian E Alexander; Albert Shun; Edward V O'Loughlin; David R Thorburn; Vicki Jermyn; Michael O Stormon Journal: JIMD Rep Date: 2011-11-04
Authors: Ran Jing; James L Corbett; Jun Cai; Gyda C Beeson; Craig C Beeson; Sherine S Chan; David P Dimmock; Lynn Lazcares; Aron M Geurts; John J Lemasters; Stephen A Duncan Journal: Cell Rep Date: 2018-11-06 Impact factor: 9.423