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., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.53, sa.3, ss.141-144, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.ejmg.2010.03.002
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.141-144
  • Anahtar Kelimeler: Chanarin-Dorfman syndrome (CDS), ABHD5 gene, Mutation analysis, ICHTHYOSIS, CGI-58, PROTEIN
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.