title: Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.
abstract: Chanarin-Dorfman syndrome (CDS) is a multisystem, autosomal recessive genetic disorder characterized by congenital non-bullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. An 18-month-old female child presented with typical dermatological features of CDS. She was born as a collodion baby. Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. Sequencing of all exons and exon-intron boundaries of the ABHD5 gene showed that the patient was homozygous for a novel mutation g.24947delG (c.773 + 1delG) in intron 5. This is the first Indian child with mutation proven CDS.
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health (NIRRH), Parel, Mumbai, Maharashtra, India.
authors.forename: P M
authors.initials: PM
authors.lastname: Tamhankar
authors.forename: S
authors.initials: S
authors.lastname: Iyer
authors.forename: S
authors.initials: S
authors.lastname: Sanghavi
authors.forename: U
authors.initials: U
authors.lastname: Khopkar
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics*; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D017490:Ichthyosis, Lamellar; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008099:Liver / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital / Q000235:genetics*; D009154:Mutation; D012867:Skin / Q000473:pathology
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human