Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene

Journal of Postgraduate Medicine

关键词: ABHD5;    Chanarin-Dorfman syndrome;    ichthyosis;    India;    mutation;   

DOI  :  10.4103/0022-3859.138826

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown