A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
- Author:
Rong HUA
1
;
Hui WU
;
Zhe CUI
;
Jin-xian CHEN
;
Zheng WANG
Author Information
1. Department of General Surgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
- Publication Type:Case Reports
- MeSH:
Female;
Humans;
Middle Aged;
Mutation, Missense;
Niemann-Pick Disease, Type B;
genetics;
Polymorphism, Single Nucleotide;
Siblings;
Sphingomyelin Phosphodiesterase;
genetics
- From:
Chinese Medical Journal
2012;125(8):1511-1512
- CountryChina
- Language:English
-
Abstract:
Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1). Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T>C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A>G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to –20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement.
