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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

10/01/1995

Pubmed ID

8693491

DOI

10.1620/tjem.177.117

Scopus ID

2-s2.0-0029386150   7 Citations

Abstract

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 G

Author

Mariko Suchi MD, PhD Associate Professor in the Pathology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Amino Acid Sequence
Base 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
jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a