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

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Topçu, Meral, Jobard, Florence, Halliez, Sophie, Coskun, Turgay, Yalçinkayal, Cengiz, Gerceker, Filiz Ozbas, Wanders, Ronald J.A., Prud'homme, Jean-François, Lathrop, Mark, Özguc, Meral, Fischer, Judith·2004·Human Molecular Genetics

DOI 10.1093/hmg/ddh300

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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.

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Authors: Topçu, M., Jobard, F., Halliez, S., Coskun, T., Yalçinkayal, C., Gerceker, F. O., Wanders, R. J. A., Prud'homme, J.-F., Lathrop, M., Özguc, M., & Fischer, J.
Affiliations: Hacettepe University (TR)
Corresponding author: Topçu, Meral
ORCID: Topçu, Meral
Halliez, Sophie
Wanders, Ronald J.A.
Lathrop, Mark
Fischer, Judith
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2004-09-22
Volume: 13
Issue: 22
Pages: 2803-2811
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddh300
OpenAlex: W2134258065
Cited by: 133
References: 38
Citations by year: 2026: 6 · 2025: 4 · 2024: 6 · 2023: 4 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 6 · 2018: 10 · 2017: 8 · 2016: 2 · 2015: 4 · 2014: 7 · 2013: 10 · 2012: 11
FWCI: 3.25
Type: journal article
Language: en
Open access: green
hdl.handle.net
Licence: other-oa
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Pure Amsterdam UMC (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
HighWire Press Open Archive (submittedVersion)
Hacettepe University Institutional Repository (hacettepe.edu.tr) (submittedVersion, other-oa)
Funders: Türkiye Bilimsel ve Teknolojik Araştırma Kurumu
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: L-2-hydroxyglutaric aciduria, homozygosity mapping, gene identification, missense mutations, nonsense mutation, splice site mutation, deletion, consanguineous family, mitochondrial proteins, FAD-dependent oxidoreductase, epilepsy, macrocephaly
MeSH terms: Adolescent, Adult, Alcohol Oxidoreductases, Central Nervous System Diseases, Child, Child, Preschool, Chromosomes, Human, Pair 14, Consanguinity, Female, Glutarates, Humans, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Oxidoreductases, Turkey, Linkage Disequilibrium, Mitochondrial Proteins

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

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