换一批
换一批摘要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.
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关键词
type B Niemann-Pick diseasesphingomyelin phosphodiesterase 1 genelysosomal acid sphingomyelinasehepatosplenomegalysplenectomy
分类号
R3
栏目名称
CASE REPORTS
DOI
10.3760/cma.j.issn.0366-6999.2012.08.027
发布时间
2012-07-13
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