title: A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
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.
authors.affiliation: Department of General Surgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Hua
authors.forename: Hui
authors.initials: H
authors.lastname: Wu
authors.forename: Zhe
authors.initials: Z
authors.lastname: Cui
authors.forename: Jin-xian
authors.initials: JX
authors.lastname: Chen
authors.forename: Zheng
authors.initials: Z
authors.lastname: Wang
mesh_terms: D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D052537:Niemann-Pick Disease, Type B / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D035781:Siblings; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase