Dutta Atanu Kumar, Danda Sumita, Muthusamy Karthik, Alexander Mathew, Sudhakar Sniya Valsa, Hansdak Samuel, Bandyopadhyay Rini, Bakhya Shree G B, Rekha L
Department of Clinical Genetics, Christian Medical College, Vellore, India.
Department of Neurology, Christian Medical College, Vellore, India.
Mol Genet Metab Rep. 2015 Mar 23;3:33-5. doi: 10.1016/j.ymgmr.2015.03.002. eCollection 2015 Jun.
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.
脑腱黄瘤病是一种脂质贮积病，其特征为腹泻、白内障、肌腱黄瘤，若不治疗会出现神经功能衰退。CYP27A1是已知其突变会导致脑腱黄瘤病的唯一基因。我们报告了来自印度不同地区的两个印度家庭，他们接受了CYP27A1的分子检测。来自印度东部的第一个家庭有两名患者，被发现外显子3存在c.526delG纯合突变，此前我们实验室在一名来自印度东部的患者中也报告过该突变。然而，我们研究的来自印度南部的第二名患者以及之前报道的两名来自印度北部的患者有不同的突变。有趣的是，之前唯一关于c.526delG突变的报道是在一名来自荷兰的苏里南人身上。迄今为止，除了在荷兰和美国（布莱克）报道的R362C突变外，脑腱黄瘤病的大多数致病突变都局限于单一人群。据我们所知，这是在两个不同人群中报道的脑腱黄瘤病的第二个致病突变。由于荷兰定居者从印度东部到苏里南的人口贸易很普遍，这种突变可能表明这些人群中有一个共同的始祖突变。
