Abstract
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Age of Onset
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Child
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DNA Mutational Analysis
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase / genetics*
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Developmental Disabilities / enzymology
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Developmental Disabilities / genetics
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Diffuse Cerebral Sclerosis of Schilder / enzymology*
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Diffuse Cerebral Sclerosis of Schilder / genetics*
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Diffuse Cerebral Sclerosis of Schilder / physiopathology
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Electron Transport / genetics
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Female
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Gene Frequency
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genetic Variation / genetics
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Homozygote
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Humans
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Infant
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Liver Diseases / enzymology
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Liver Diseases / genetics
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Male
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Mitochondria / enzymology
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Mitochondria / genetics
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / physiopathology
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Mutation / genetics*
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Status Epilepticus / enzymology
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Status Epilepticus / genetics
Substances
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human