title: A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
abstract: 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.
authors.affiliation: Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. elsebet.oestergaard@rh.regionh.dk
authors.forename: Elsebet
authors.initials: E
authors.lastname: Ostergaard
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: Mustafa
authors.initials: M
authors.lastname: Batbayli
authors.forename: Ernst
authors.initials: E
authors.lastname: Christensen
authors.forename: Ola
authors.initials: O
authors.lastname: Hjalmarson
authors.forename: Gittan
authors.initials: G
authors.lastname: Kollberg
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Holme
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial; D008764:Methylmalonic Acid; D013389:Succinate-CoA Ligases; C518788:SUCLA2 protein, human