| Title : Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene - Emre_2010_Eur.J.Med.Genet_53_141 |
| Author(s) : Emre S , Unver N , Evans SE , Yuzbasioglu A , Gurakan F , Gumruk F , Karaduman A |
| Ref : Eur Journal of Medical Genetics , 53 :141 , 2010 |
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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). |
| PubMedSearch : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedID: 20307695 |
| Mutation | Y50X_human-ABHD5 S73A_human-ABHD5 R199QfsX10_human-ABHD5 |
| Disease | Chanarin-Dorfman syndrome |
Emre S, Unver N, Evans SE, Yuzbasioglu A, Gurakan F, Gumruk F, Karaduman A (2010)
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene
Eur Journal of Medical Genetics
53 :141
Emre S, Unver N, Evans SE, Yuzbasioglu A, Gurakan F, Gumruk F, Karaduman A (2010)
Eur Journal of Medical Genetics
53 :141