Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. Tohoku J Exp Med 1995 Oct;177(2):117-23
Date
10/01/1995Pubmed ID
8693491DOI
10.1620/tjem.177.117Scopus ID
2-s2.0-0029386150 (requires institutional sign-in at Scopus site) 7 CitationsAbstract
Types A and B Niemann-Pick disease (NPD), an autosomal recessive lysosomal storage disorder, are caused by deficiency of acid sphingomyelinase (ASM). The recent identification of mutations in ASM gene causing types A and B NPD has led to the investigation of the phenotypic heterogeneity and the ethnic distribution of this disease, especially in Ashkenazi Jewish population. To characterize the mutations causing NPD in Japanese population, we analyzed the genomic sequence of ASM from a Japanese patient with type A NPD by PCR amplification and sequencing. A new mutation, Y446C, was identified. The authenticity of this lesion was demonstrated by the expression of the Y446C allele in COS-1 cells. No residual ASM activity was detected from the expression of the Y446C.
Author List
Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada GAuthor
Mariko Suchi MD, PhD Associate Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Amino Acid SequenceBase Sequence
Cells, Cultured
Cloning, Molecular
DNA
Exons
Gene Expression
Humans
Infant
Male
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
Niemann-Pick Diseases
Phenotype
Polymerase Chain Reaction
Sphingomyelin Phosphodiesterase
