| Title : Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene - Tamhankar_2014_J.Postgrad.Med_60_332 |
| Author(s) : Tamhankar PM , Iyer S , Sanghavi S , Khopkar U |
| Ref : J Postgrad Med , 60 :332 , 2014 |
| 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. |
| ESTHER : Tamhankar_2014_J.Postgrad.Med_60_332 |
| PubMedSearch : Tamhankar_2014_J.Postgrad.Med_60_332 |
| PubMedID: 25121381 |
| Gene_locus related to this paper: human-ABHD5 |
| Gene_locus related to this paper: human-ABHD5 |
Tamhankar PM, Iyer S, Sanghavi S, Khopkar U (2014)
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene
J Postgrad Med
60 :332
Tamhankar PM, Iyer S, Sanghavi S, Khopkar U (2014)
J Postgrad Med
60 :332