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Human Molecular Genetics Advance Access published online on September 22, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh300
© 2004 by Oxford University Press
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Article

L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Meral Topçu 1, Florence Jobard 2, Sophie Halliez 2, Turgay Coskun 3, Cengiz Yalçinkaya1 4, Filiz Ozbas Gerceker 3, Ronald J.A. Wanders 5, Jean-François Prud'homme 6, Mark Lathrop 2, Meral Özguc 7, and Judith Fischer 2*

1 Hacettepe University Medical Faculty, Department of Pediatrics, Child Neurology, 06100 Ankara, Turkey
2 Centre National de Génotypage, 91057 Evry, France
3 Hacettepe University Medical Faculty, Department of Pediatrics, Metabolism and Nutrition, 06100 Ankara, Turkey
4 Istanbul University Cerrahpasa Medical Faculty, Department of Neurology, 34098 Istanbul, Turkey
5 University Hospital Amsterdam, Department of Pediatrics and Clinical Chemistry, Laboratory for Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands
6 Généthon, 91000 Evry, France
7 Hacettepe University Medical Faculty, Tübitak DNA and Cell Bank, 06100 Ankara, Turkey

* To whom correspondence should be addressed. E-mail: fischer{at}cng.fr.


  Abstract

L-2-hydroxyglutaric aciduria is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases plus elevated levels of L-2-hydroxyglutaric acid in urine, blood, and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct abnormalities. We report the identification of a gene for L-2-hydroxyglutaric aciduria (MIM 236792) using homozygosity mapping. Nine homozygous mutations including three missense mutations, two nonsense mutations, two splice site mutations and two deletions were identified in the gene C14orf160, localized on chromosome 14q22.1, in 21 patients from one non-consanguineous and 14 consanguineous Turkish families. We propose to name the gene duranin. Duranin encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases. The functional role of this enzyme in intermediary metabolism in humans remains to be established.


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