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l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
Open accessAbstract
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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“D-2-HG produced by mIDH1/2 has been shown to drive a CpG island methylator phenotype (G-CIMP) in both glioma and ICC tumours to promote tumorigenesis, and has also been found to occupy the active site of histone demethylases thereby increasing histone methylation in primary gliomas121,123-125.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [125]
In the citing paper
“D-2-HG produced by mIDH1/2 has been shown to drive a CpG island methylator phenotype (G-CIMP) in both glioma and ICC tumours to promote tumorigenesis, and has also been found to occupy the active site of histone demethylases thereby increasing histone methylation in primary gliomas121,123-125.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [125]
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Metadata
- 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
- 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
- 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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