A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease  

作　　者：HUA Rong WU Hui CUI Zhe CHEN Jin-xian WANG Zheng 

机构地区：[1]Department of General Surgery,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China

出　　处：《Chinese Medical Journal》2012年第8期1511-1512,共2页中华医学杂志（英文版）

摘　　要：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,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,

关 键 词：type B Niemann-Pick disease sphingomyelin phosphodiesterase 1 gene lysosomal acid sphingomyelinase HEPATOSPLENOMEGALY SPLENECTOMY 

分 类 号：Q754[生物学—分子生物学] TS193.632[轻工技术与工程—纺织化学与染整工程]