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

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

HUA Rong;WU Hui;CUI Zhe;CHEN Jin-xian;WANG Zheng

【期刊名称】《中华医学杂志（英文版）》 【年(卷),期】2012(125)008

【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. 【总页数】2页(1511-1512) 【关键词】

【作者】HUA Rong;WU Hui;CUI Zhe;CHEN Jin-xian;WANG Zheng

【作者单位】Department of General Surgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China;Department of General Surgery, Renji Hospital, Shanghai Jiao Tong

University

School

of

Medicine,

Shanghai

200127,

China;Department of General Surgery, Renji Hospital, Shanghai Jiao