• Chinese medical journal · Apr 2012

    Case Reports

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

    • Rong Hua, Hui Wu, Zhe Cui, Jin-xian Chen, and Zheng Wang.
    • Department of General Surgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
    • Chin. Med. J. 2012 Apr 1; 125 (8): 1511-2.

    AbstractType 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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