A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease
- Resource Type
- Academic Journal
- Authors
- HUA, Rong; WU, Hui; CUI, Zhe; CHEN, Jin-xian; WANG, Zheng
- Source
- Chinese Medical Journal. Jan 01, 2012 125(8):1511-1512
- Subject
- Language
- English
- ISSN
- 0366-6999
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.