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

Elsebet Østergaard; Marianne Schwartz; Mustafa Batbayli; Ernst Christensen; Ola Hjalmarson; Gittan Kollberg; Elisabeth Holme

doi:10.1007/s00431-009-1007-z

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

Elsebet Østergaard, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme

Institut for Klinisk Medicin

40 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	European Journal of Pediatrics
Vol/bind	169
Udgave nummer	2
Sider (fra-til)	201-5
Antal sider	5
ISSN	0340-6199
DOI	https://doi.org/10.1007/s00431-009-1007-z
Status	Udgivet - 1 feb. 2010

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10.1007/s00431-009-1007-z

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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 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.",

author = "Elsebet {\O}stergaard and Marianne Schwartz and Mustafa Batbayli and Ernst Christensen and Ola Hjalmarson and Gittan Kollberg and Elisabeth Holme",

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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 - Acta Paediatrica Hungarica

JF - Acta Paediatrica Hungarica

IS - 2

ER -

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

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