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Rare disease
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
  1. Aradhana Aneja1,
  2. Aditi Sharma1,
  3. Ashwin Dalal2,
  4. Vishal Sondhi1
  1. 1Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India
  2. 2Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India
  1. Correspondence to Dr Vishal Sondhi, dr.sondhi{at}yahoo.co.in

Summary

Niemann-Pick disease (NPD) is a heterogenous group of progressive neurovisceral disorder characterised by lysosomal accumulation of sphingomyelin. NPD types A and B are caused by mutations involving sphingomyelin-phosphodiesterase-1 (SMPD1) gene and are characterised by deficiency of acid sphingomyelinase activity. We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.

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