A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

TY - JOUR

T1 - A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

AU - Østergaard, Elsebet

AU - Schwartz, Marianne

AU - Batbayli, Mustafa

AU - Christensen, Ernst

AU - Hjalmarson, Ola

AU - Kollberg, Gittan

AU - Holme, Elisabeth

PY - 2010/2/1

Y1 - 2010/2/1

N2 - Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the α 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.

AB - Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the α 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.

U2 - 10.1007/s00431-009-1007-z

DO - 10.1007/s00431-009-1007-z

M3 - Journal article

SN - 0340-6199

VL - 169

SP - 201

EP - 205

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 2

ER -