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

doi:10.1007/s00431-009-1007-z

Case Reports

. 2010 Feb;169(2):201-5.

doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14.

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

Elsebet Ostergaard¹, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme

Affiliations

Affiliation

¹ Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. elsebet.oestergaard@rh.regionh.dk

PMID: 19526370
DOI: 10.1007/s00431-009-1007-z

Case Reports

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

Elsebet Ostergaard et al. Eur J Pediatr. 2010 Feb.

. 2010 Feb;169(2):201-5.

doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14.

Authors

Elsebet Ostergaard¹, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme

Affiliation

¹ Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. elsebet.oestergaard@rh.regionh.dk

PMID: 19526370
DOI: 10.1007/s00431-009-1007-z

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.

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References

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[1] Biochim Biophys Acta. 1991 Aug 6;1074(3):339-46 - PubMed

[2] Biochim Biophys Acta. 1991 Aug 6;1074(3):339-46 - PubMed

[3] N Engl J Med. 1986 Aug 21;315(8):469-75 - PubMed

[4] N Engl J Med. 1986 Aug 21;315(8):469-75 - PubMed

[5] Arch Biochem Biophys. 2002 Feb 15;398(2):160-9 - PubMed

[6] Arch Biochem Biophys. 2002 Feb 15;398(2):160-9 - PubMed

[7] Am J Hum Genet. 2005 Jun;76(6):1081-6 - PubMed

[8] Am J Hum Genet. 2005 Jun;76(6):1081-6 - PubMed

[9] Biochem Mol Biol Educ. 2006 Jan;34(1):21-9 - PubMed

[10] Biochem Mol Biol Educ. 2006 Jan;34(1):21-9 - PubMed

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

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

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