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

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 from different regions...

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Bibliographic Details
Main Authors: Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, Mathew Alexander, Sniya Valsa Sudhakar, Samuel Hansdak, Rini Bandyopadhyay, G.B. Bakhya Shree, L. Rekha
Format: Article
Language:English
Published: Elsevier 2015-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Cerebrotendinous xanthomatosis
CYP27A1
c.526delG
Eastern India
Suriname
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915000130

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http://www.sciencedirect.com/science/article/pii/S2214426915000130

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