Novel Mutation in an Infant with Niemann-Pick Disease Type A/B

Introduction

Niemann-Pick disease (NPD) is a rare autosomal recessively inherited lysosomal storage disorder caused by the deficiency of lysosomal acid sphingomyelinase, which is encoded by the sphingomyelin phosphodiesterase-1 (SMPD1, MIM# 607608) gene [Schuchman et al. 1991]. This defect results in the accumulation of sphingomyelin and other lipids within cells of the monocyte-macrophage system. Here, we report on an infant with a new frameshift mutation (c.575dupG) of the SMPD1 gene.

• References

• 1 Blohm ME, Vesterling-Hörner D, Calaminus G et al. Alpha 1 fetoprotein (AFP) reference values in infants up to 2 years of age. Pediatr Hematol Oncol 1998; 15: 135-142
• 2 Irun P, Mallen M, Dominguez C et al. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. Clin Genet 2013; 84: 356-361
• 3 McGovern MM, Wasserstein MP, Giugliani R et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics 2008; 122: e341-e349
• 4 Ricci V, Stroppiano M, Corsolini F et al. Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. Hum Mutat 2004; 24: 105
• 5 Schuchman EH, Suchi M, Takahashi T et al. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 1991; 266: 8531-8539
• 6 Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis 2007; 30: 654-663
• 7 Wasserstein MP, Aron A, Brodie SE et al. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr 2006; 149: 554-559