Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis. We report two Indian families fromdifferent regions of India who underwent molecular testing of CYP27A1. The first family fromEastern India consisting of two affected individualswas found to have the c. 526delG homozygous mutation in exon 3, previously reported fromour laboratory, also in a patient from Eastern India. However the second affected individual from Southern India that we studied and two previously reported cases from Northern India have different mutations. Interestingly the only previous report of c. 526delGmutation was in a Surinamese individual fromthe Netherlands. To date most of the pathogenicmutations for Cerebrotendinous xanthomatosis have been confined to single population except for R362C mutation which was reported from the Netherlands and the USA (Black). To our knowledge this is the second causal mutation for Cerebrotendinous xanthomatosis which has been reported in two different populations. As human tradingwas prevalent fromEastern India to Surinamby theDutch settlers thismutation might suggest a common founder mutation in these populations. (C) 2015 The Authors. Published by Elsevier Inc.