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

• 作 者: HUA Rong WU Hui CUI Zhe CHEN J
• 机 构: Department of General Surgery
• 出 处: 中华医学杂志（英文版）
• 发表日期: 2004年期
• 关键词: type B Niemann-Pick disease sphingomyelin phosphodiesterase 1 gene lysosomal aci

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.