title: Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
abstract: Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells. Less than 100 affected individuals have been reported worldwide, the majority from the Mediterranean and Middle-East countries, especially Turkey. We present clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provide a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. No major clinical differences exist between individuals with an N209X mutation and those with other mutations, which argues against a genotype/phenotype correlation.
authors: Akdeniz University School of Medicine, Department of Pediatric Genetics, 07059 Antalya, Turkey. Electronic address: banuguzel@hotmail.com.
authors: Banu Guzel
authors: BG
authors: Nur
authors: Akdeniz University School of Medicine, Department of Pediatric Neurology, Antalya, Turkey.
authors: Pinar
authors: P
authors: Gencpinar
authors: Hacettepe University School of Medicine, Department of Medical Biology, Ankara, Turkey.
authors: Ayse
authors: A
authors: Yuzbasıoglu
authors: Hacettepe University School of Medicine, Department of Medical Biology, Ankara, Turkey.
authors: Serap Dokmeci
authors: SD
authors: Emre
authors: Akdeniz University School of Medicine, Department of Pediatric Genetics, 07059 Antalya, Turkey.
authors: Ercan
authors: E
authors: Mihci
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human
keywords: ABHD5/CGI-58 gene; Chanarin-Dorfman syndrome; Ichthyosis; Jordan anomaly