Description:
HURLER-SCHEIE SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Asiatic Indian
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
4 |
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| L-iduronidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.76 |
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| Gene |
IDUA |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 1 |
252800.0012; HURLER/SCHEIE SYNDROME |
| Identified Mutation |
LEU490PRO; Tieu et al. (1995) demonstrated that the Hurler/Scheie cell line GM 00512 had a T-to-C transition in codon 490, converting leucine (CTG) to proline (CCG), and creating a SmaI site. No alpha-L-iduronidase activity was detected when cDNA containing the L490P mutation was expressed in COS-1 cells. There was no evidence for heterozygosity either in the genomic sequence or in the restriction digest, suggesting that the mutation was present in homozygous form. However, hemizygosity, because of either deletion of the IDUA gene on 1 chromosome or uniparental disomy, had not been ruled out. The GM 00512 cell line was derived from a patient of Asian Indian origin, whose parents were not known to be consanguineous. Homozygosity had been observed previously only in consanguineous families or for the most common mutations, W402X (252800.0001) and Q70X (252800.0002). It is therefore possible that the L490P mutation is relatively common among Indian MPSI patients.
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| Gene |
IDUA |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 2 |
252800.0012; HURLER/SCHEIE SYNDROME |
| Identified Mutation |
LEU490PRO; Tieu et al. (1995) demonstrated that the Hurler/Scheie cell line GM 00512 had a T-to-C transition in codon 490, converting leucine (CTG) to proline (CCG), and creating a SmaI site. No alpha-L-iduronidase activity was detected when cDNA containing the L490P mutation was expressed in COS-1 cells. There was no evidence for heterozygosity either in the genomic sequence or in the restriction digest, suggesting that the mutation was present in homozygous form. However, hemizygosity, because of either deletion of the IDUA gene on 1 chromosome or uniparental disomy, had not been ruled out. The GM 00512 cell line was derived from a patient of Asian Indian origin, whose parents were not known to be consanguineous. Homozygosity had been observed previously only in consanguineous families or for the most common mutations, W402X (252800.0001) and Q70X (252800.0002). It is therefore possible that the L490P mutation is relatively common among Indian MPSI patients.
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| Remarks |
Deficient Alpha-L-Iduronidase; Hurler/ Scheie syndrome |
| Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF, Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S) Human mutation6:55-9 1995 |
| PubMed ID: 7550232 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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