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Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene
P M Tamhankar1, S Iyer, S Sanghavi
1Genetic Research Center, National Institute for Research in Reproductive Health (NIRRH), Parel, Mumbai, Maharashtra, India.
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.
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