1. Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Malavika Hebbar, MD 1 Harsha Prasad L., MD 1 Aneek Das Bhowmik, PhD 2 Daniel Trujillano, PhD 3 Anju Shukla, MD 1 Shrijeet Chakraborti, MD 1 Krishna Kumar Kandaswamy, PhD 3 Prof. Arndt Rolfs, MD 3, 4 Prof. Nutan Kamath, MD 1 Ashwin Dalal, MD 2 Stephanie Bielas, PhD 5 Katta Girisha, MD 1
1 Manipal University 2 Centre for DNA Fingerprinting and Diagnostics Hyderabad 3 CENTOGENE AG 4 University of Rostock 5 University of Michigan
May 30, 2016

Am J Med Genet Part A 9999A:1–4
DOI: 10.1002/ajmg.a.37794

Niemann–Pick disease type C (MIM 607625; NP-C) is an autosomal recessive, lysosomal storage disorder caused by impaired cholesterol and glycolipid trafficking due to pathogenic variations in either NPC1 (accounting for more than 95% of cases) or NPC2 [Park et al., 2003]. The birth incidence ranges from 0.66 to 0.83 per 100,000 in France, the United Kingdom, and Germany. However, this disorder is observed less frequently in Australia, the Netherlands, and northern Portugal [Vanier, 2010]. Niemann–Pick disease type C is a clinically heterogeneous multi-system disorder leading to accumulation of fat and neurodegeneration. Being a neurovisceral disorder, it mainly affects liver,spleen, lungs, and nervous system [Patterson et al., 2012]. Here we report the first patient with NP-C associated with a deletion of two exons inNPC2.