R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

Aradhana Aneja; Aditi Sharma; Ashwin Dalal; Vishal Sondhi

doi:10.1136/bcr-2012-006959

R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

BMJ Case Rep. 2012 Nov 27:2012:bcr2012006959. doi: 10.1136/bcr-2012-006959.

Authors

Aradhana Aneja¹, Aditi Sharma, Ashwin Dalal, Vishal Sondhi

Affiliation

¹ Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India.

Abstract

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.

Publication types

Case Reports

MeSH terms

Alleles*
Amino Acid Substitution / genetics
Arginine / genetics
Codon, Terminator / genetics
DNA Mutational Analysis*
Female
Fluorescein Angiography
Homozygote
Humans
Infant
Niemann-Pick Disease, Type A / diagnosis*
Niemann-Pick Disease, Type A / genetics*
Niemann-Pick Disease, Type B / diagnosis*
Niemann-Pick Disease, Type B / genetics*
Phenotype*
Sphingomyelin Phosphodiesterase / deficiency
Sphingomyelin Phosphodiesterase / genetics*

Substances

Codon, Terminator
Arginine
acid sphingomyelinase-1
SMPD1 protein, human
Sphingomyelin Phosphodiesterase