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NA03252 DNA from Fibroblast

Description:

NIEMANN-PICK DISEASE, TYPE A
SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

Affected:

Yes

Sex:

Female

Age:

21 FW (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
GeT-RM Samples
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks 2% of normal sphingomyelinase activity and deficient phospholipase C activity in fibroblasts; similarly affected brother; type B; donor is a compound heterozygote: one allele with a T>C transition at nucleotide 905 in exon 2 of the SMPD1 gene [905T>C] resulting in a substitution of proline for leucine at codon 302 [Leu302Pro (L302P)]; other allele carries an uncharacterized mutation. Submission previously diagnosed as Neimann-Pick Disease, Type B; further genetic testing confirmed Niemann-Pick Disease, Type A mutation.

Characterizations

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Passage Frozen 6
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
sphingomyelin phosphodiesterase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.4.12; 2% activity.
 
Gene SMPD1
Chromosomal Location 11p15.4-p15.1
Allelic Variant 1 607608.0010; NIEMANN-PICK DISEASE, TYPE A
Identified Mutation LEU302PRO; Levran et al. (Blood 80: 2081-2087, 1992) reported a T-to-C transition at nucleotide 905, predicting a leucine-to-proline substitution at SMPD1 codon 302 in 8 of 34 (23.5%) Ashkenazi type A Niemann-Pick disease (257200) alleles studied. In contrast, it was not found in any of the SMPD1 alleles from non-Jewish type A patients or in alleles from type B patients or in 100 SMPD1 alleles from normal Ashkenazi Jewish persons. Three mutations, R496L (607608.0001), 1-BP DEL, PRO330FS (607608.0011), and this mutation, account for about 65% of the mutant SMPD1 alleles in Ashkenazi Jewish type A Niemann-Pick disease patients.

Phenotypic Data

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Remarks 2% of normal sphingomyelinase activity and deficient phospholipase C activity in fibroblasts; similarly affected brother; type B; donor is a compound heterozygote: one allele with a T>C transition at nucleotide 905 in exon 2 of the SMPD1 gene [905T>C] resulting in a substitution of proline for leucine at codon 302 [Leu302Pro (L302P)]; other allele carries an uncharacterized mutation. Submission previously diagnosed as Neimann-Pick Disease, Type B; further genetic testing confirmed Niemann-Pick Disease, Type A mutation.

Publications

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Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W, An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous pL302P (c905 T>C) mutation in the SMPD1 gene Stem cell research38:101461 2019
PubMed ID: 31132580
 
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Levran O, Desnick RJ, Schuchman EH, Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A88:3748-52 1991
PubMed ID: 2023926
 
Takada G, Satoh W, Komatsu K, Konn Y, Miura Y, Uesaka Y, Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters. Tohoku J Exp Med153:27-36 1987
PubMed ID: 2823414
 
Pentchev PG, Comly ME, Kruth HS, Patel S, Proestel M, Weintroub H, The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J Biol Chem261:2772-7 1986
PubMed ID: 3949747
 
Beaudet AL, Manschreck AA, Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B. Biochem Biophys Res Commun105:14-9 1982
PubMed ID: 7092849

External Links

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dbSNP dbSNP ID: 10632
Gene Cards SMPD1
Gene Ontology GO:0004767 sphingomyelin phosphodiesterase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006685 sphingomyelin catabolism
GO:0007165 signal transduction
GO:0007399 neurogenesis
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:6609
NCBI GTR 257200 NIEMANN-PICK DISEASE, TYPE A
607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
OMIM 257200 NIEMANN-PICK DISEASE, TYPE A
607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Omim Description NIEMANN-PICK DISEASE, TYPE A
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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