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

Eur J Med Genet. 2010 May-Jun;53(3):141-4. doi: 10.1016/j.ejmg.2010.03.002. Epub 2010 Mar 20.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Ichthyosis / genetics*
  • Infant
  • Lipid Metabolism, Inborn Errors / genetics*
  • Male
  • Models, Genetic
  • Mutation*
  • Syndrome

Substances

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human