Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene

Abstract Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids in various types of cells. Recently, mutations of the ABHD5 gene were identified as the cause of CDS. In this work, we carrie...

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Bibliographic Details
Published in:European journal of medical genetics 2010-05, Vol.53 (3), p.141-144
Main Authors: Emre, Serap, Ünver, Neşe, Evans, Sibel Ersoy, Yüzbaşoğlu, Ayşe, Gürakan, Figen, Gümrük, Fatma, Karaduman, Ayşen
Format: Article
Language:English
Subjects:
1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics
ABHD5 gene
Adolescent
Adult
Chanarin-Dorfman syndrome (CDS)
Child
Child, Preschool
DNA Mutational Analysis - methods
Female
Humans
Ichthyosis - genetics
Infant
Lipid Metabolism, Inborn Errors - genetics
Male
Medical Education
Models, Genetic
Mutation
Mutation analysis
Syndrome
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Summary:Abstract Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids in various types of cells. Recently, mutations of the ABHD5 gene were identified as the cause of CDS. In this work, we carried out molecular analysis of the ABHD5 gene in 6 unrelated patients. We identified one previously reported mutation, N209X and two novel genetic alterations; a nonsense mutation (p.Y50X) and missense mutation (p.S73A).
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.03.002