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


EMRE S. , Unver N. , EVANS S., YÜZBAŞIOĞLU A. , GÜRAKAN F., GÜMRÜK F. , ...More

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.53, no.3, pp.141-144, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 3
  • Publication Date: 2010
  • Doi Number: 10.1016/j.ejmg.2010.03.002
  • Title of Journal : EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.141-144
  • Keywords: Chanarin-Dorfman syndrome (CDS), ABHD5 gene, Mutation analysis, ICHTHYOSIS, CGI-58, PROTEIN

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). (C) 2010 Elsevier Masson SAS. All rights reserved.