Journal Article

<span class="smallCaps">l</span>-2-Hydroxyglutaric aciduria: identification of a mutant gene <i>C14orf160</i>, localized on chromosome 14q22.1

Meral Topçu, Florence Jobard, Sophie Halliez, Turgay Coskun, Cengiz Yalçinkayal, Filiz Ozbas Gerceker, Ronald J.A. Wanders, Jean-François Prud'homme, Mark Lathrop, Meral Özguc and Judith Fischer

in Human Molecular Genetics

Volume 13, issue 22, pages 2803-2811
Published in print November 2004 | ISSN: 0964-6906
Published online September 2004 | e-ISSN: 1460-2083 | DOI:
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

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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.

Journal Article.  5248 words.  Illustrated.

Subjects: Genetics and Genomics

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