title: Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
abstract: 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 from different regions of India who underwent molecular testing of CYP27A1. The first family from Eastern India consisting of two affected individuals was found to have the c.526delG homozygous mutation in exon 3, previously reported from our 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.526delG mutation was in a Surinamese individual from the Netherlands. To date most of the pathogenic mutations 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 trading was prevalent from Eastern India to Surinam by the Dutch settlers this mutation might suggest a common founder mutation in these populations.
authors.affiliation: Department of Clinical Genetics, Christian Medical College, Vellore, India.
authors.forename: Atanu Kumar
authors.initials: AK
authors.lastname: Dutta
authors.affiliation: Department of Clinical Genetics, Christian Medical College, Vellore, India.
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.affiliation: Department of Neurology, Christian Medical College, Vellore, India.
authors.forename: Karthik
authors.initials: K
authors.lastname: Muthusamy
authors.affiliation: Department of Neurology, Christian Medical College, Vellore, India.
authors.forename: Mathew
authors.initials: M
authors.lastname: Alexander
authors.affiliation: Department of Radiology, Christian Medical College, Vellore, India.
authors.forename: Sniya Valsa
authors.initials: SV
authors.lastname: Sudhakar
authors.affiliation: Department of Internal Medicine, Christian Medical College, Vellore, India.
authors.forename: Samuel
authors.initials: S
authors.lastname: Hansdak
authors.affiliation: Department of Internal Medicine, Christian Medical College, Vellore, India.
authors.forename: Rini
authors.initials: R
authors.lastname: Bandyopadhyay
authors.affiliation: Department of Clinical Genetics, Christian Medical College, Vellore, India.
authors.forename: G B
authors.initials: GB
authors.lastname: Bakhya Shree
authors.affiliation: Department of Clinical Genetics, Christian Medical College, Vellore, India.
authors.forename: L
authors.initials: L
authors.lastname: Rekha
keywords: CYP27A1; Cerebrotendinous xanthomatosis; Eastern India; Suriname; c.526delG