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

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 fe...

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Bibliographic Details
Published in:Journal of postgraduate medicine (Bombay) 2014-07, Vol.60 (3), p.332
Main Authors: Tamhankar, P, Iyer, S, Sanghavi, S, Khopkar, U
Format: Article
Language:English
Subjects:
Case studies
Gene mutations
Genes
Genetic aspects
Genetic disorders
Mutation
Patients
Proteins
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Description
Summary: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.
ISSN:0022-3859
0972-2823
DOI:10.4103/0022-3859.138826