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.
Subject(s)
1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics , Ichthyosiform Erythroderma, Congenital/genetics , Lipid Metabolism, Inborn Errors/genetics , Muscular Diseases/genetics , Biopsy , DNA Mutational Analysis , Female , Humans , Ichthyosis, Lamellar , Infant , Liver/pathology , Muscular Diseases/congenital , Mutation , Skin/pathologyABSTRACT
An Indian Muslim boy was diagnosed with thalassaemia major at 3 months of age. His blood investigations revealed haemoglobin: 5.3 gm%, MCV: 68 fl, MCH 26.6 pg, MCHC: 39%, haemoglobin variant analysis: HbA(2): 2.8%, HbF: 20.3% and HbA: 75.2% (post-transfusion). His fathers' haemoglobin was 10.2 gm%, MCV: 68 fl, MCH: 23.9 pg, MCHC: 35% HbA(2): 4.7%, HbF: 0.7% and HbA: 85.2% and his mothers' haemoglobin was 10.9 gm%, MCV: 67.4 fl, MCH 22.6 pg, MCHC: 33.5%, HbA(2): 5.3%, HbF: 0% and HbA: 85.4%. The boy was found to be compound heterozygote for beta globin gene mutations (HBB:c.92 + 5G > C/HBB:c.93-2A > C). The mutation HBB:c.93-2A > C was inherited from his father. This report confirms the presence of HBB:c.93-2A > C in the Indian subcontinent and has important implications for screening and prenatal diagnosis of beta thalassaemia. This report also supports inclusion of this mutation in the beta globin gene mutation database.
