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NA02528 DNA from Fibroblast

Description:

MUCOLIPIDOSIS IV
GLUCOSIDASE, ACID BETA; GBA
MUCOLIPIN 1; MCOLN1

Affected:

Yes

Sex:

Male

Age:

8 MO (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 Carbohydrate Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity ASHKENAZI
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ashkenazi; fibroblasts show grossly abnormal storage bodies and normal levels of acid hydrolases; donor subject is homozygous for an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene [IVS3-2A>G] resulting in the skipping of exon 4; donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)].

Characterizations

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PDL at Freeze 1.69
Passage Frozen 24
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
MUTATION VERIFICATION The IVS3-2A>G gene mutation in this sample has been verified by 6 laboratories and the N370S mutation has been verified by 5 laboratories.
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 1 606463.0003; GAUCHER DISEASE, TYPE I
Identified Mutation ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population.
 
Gene MCOLN1
Chromosomal Location 19p13.3-p13.2
Allelic Variant 1 605248.0001; MUCOLIPIDOSIS IV
Identified Mutation IVS3AS,A>G,-2; In 12 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the major Ashkenazi founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous A-to-G transition in the acceptor splice site of the third intron of the MCOLN1 gene. One heterozygote was found among 60 Ashkenazi normal controls; this was consistent with the estimated frequency of heterozygotes (1/50) in this population. Bassi et al. (Am J Hum Genet 67:1110-1120, 2000) identified this acceptor splice site mutation, which they designated 486-2A-G, as the major founder mutation in Ashkenazi Jewish patients. The mutation disrupted the GT-AG rule of splicing and resulted in a transcript lacking 165 bp, because of the skipping of exon 4. This caused a frameshift leading to a premature translation termination 374 bp downstream. The predicted truncated protein retained only the first 21 amino acids of the wildtype protein.
 
Gene MCOLN1
Chromosomal Location 19p13.3-p13.2
Allelic Variant 2 605248.0001; MUCOLIPIDOSIS IV
Identified Mutation IVS3AS,A>G,-2; In 12 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the major Ashkenazi founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous A-to-G transition in the acceptor splice site of the third intron of the MCOLN1 gene. One heterozygote was found among 60 Ashkenazi normal controls; this was consistent with the estimated frequency of heterozygotes (1/50) in this population. Bassi et al. (Am J Hum Genet 67:1110-1120, 2000) identified this acceptor splice site mutation, which they designated 486-2A-G, as the major founder mutation in Ashkenazi Jewish patients. The mutation disrupted the GT-AG rule of splicing and resulted in a transcript lacking 165 bp, because of the skipping of exon 4. This caused a frameshift leading to a premature translation termination 374 bp downstream. The predicted truncated protein retained only the first 21 amino acids of the wildtype protein.

Phenotypic Data

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Remarks Ashkenazi; fibroblasts show grossly abnormal storage bodies and normal levels of acid hydrolases; donor subject is homozygous for an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene [IVS3-2A>G] resulting in the skipping of exon 4; donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)].

Publications

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Chen Y1,2, Jian J1, Hettinghouse A1, Zhao X3, Setchell KDR3, Sun Y3, Liu CJ4,5, Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease J Mol Med96:1359-1373 2018
PubMed ID: 30341570
 
Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013
PubMed ID: 23983233
 
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
 
Berman ER, Livni N, Shapira E, Merin S, Levij IS, Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis. J Pediatr84:519-26 1974
PubMed ID: 4365943

External Links

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dbSNP dbSNP ID: 10531
Gene Cards GBA
MCOLN1
Gene Ontology GO:0004348 glucosylceramidase activity
GO:0005261 cation channel activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006665 sphingolipid metabolism
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0007040 lysosome organization and biogenesis
GO:0016020 membrane
GO:0016021 integral to membrane
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:2629
Gene ID:57192
NCBI GTR 252650 MUCOLIPIDOSIS IV; ML4
605248 MUCOLIPIN 1; MCOLN1
606463 GLUCOSIDASE, BETA, ACID; GBA
OMIM 252650 MUCOLIPIDOSIS IV; ML4
605248 MUCOLIPIN 1; MCOLN1
606463 GLUCOSIDASE, BETA, ACID; GBA
Omim Description ML IV
  MUCOLIPIDOSIS IV
  SIALOLIPIDOSIS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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