A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.
Ostergaard
Elsebet
E
Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. elsebet.oestergaard@rh.regionh.dk
Schwartz
Marianne
M
Batbayli
Mustafa
M
Christensen
Ernst
E
Hjalmarson
Ola
O
Kollberg
Gittan
G
Holme
Elisabeth
E
D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005500:Follow-Up Studies; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood / Q000652:urine*; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D013389:Succinate-CoA Ligases / Q000235:genetics*; D013997:Time Factors
D004272:DNA, Mitochondrial; D008764:Methylmalonic Acid; D013389:Succinate-CoA Ligases; C518788:SUCLA2 protein, human