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

Abstract:

: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_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Topçu M,Jobard F,Halliez S,Coskun T,Yalçinkayal C,Gerceker FO,Wanders RJ,Prud'homme JF,Lathrop M,Ozguc M,Fischer J

doi

10.1093/hmg/ddh300

subject

Has Abstract

pub_date

2004-11-15 00:00:00

pages

2803-11

issue

22

eissn

0964-6906

issn

1460-2083

pii

ddh300

journal_volume

13

pub_type

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