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Human Molecular Genetics Advance Access originally published online on September 22, 2004
Human Molecular Genetics 2004 13(22):2803-2811; doi:10.1093/hmg/ddh300
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Human Molecular Genetics, Vol. 13, No. 22 © Oxford University Press 2004; all rights reserved

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

Meral Topçu1, Florence Jobard4, Sophie Halliez4, Turgay Coskun2, Cengiz Yalçinkayal5, Filiz Ozbas Gerceker2, Ronald J.A. Wanders6, Jean-François Prud'homme7, Mark Lathrop4, Meral Özguc3 and Judith Fischer4,*

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

Received July 10, 2004; Accepted September 15, 2004

L-2-Hydroxyglutaric aciduria (L-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and 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-HGA 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.

* To whom correspondence should be addressed. Tel: +33 160878357; Fax: +33 160878383; Email: fischer{at}cng.fr


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