NA00643
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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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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| PDL at Freeze |
4.7 |
| Passage Frozen |
5 |
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| N-sulfoglucosamine sulfohydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1 |
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| Gene |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 1 |
605270.0004; SANFILIPPO SYNDROME A |
| Identified Mutation |
1-BP DEL, 1091C; Montfort et al (1998) presented mutation analysis and clinical findings in 11 Spanish patients with Sanfilippo syndrome A (252900) in whom 19 of the 22 mutant alleles had been identified. Seven different mutations were found, of which 4 had not previously been described. The most frequent mutation was a 1-bp deletion (C) at nucleotide 1091 which accounted for nearly one-half of the mutated alleles. It was present in homozygous state in 3 patients and in compound heterozygous state in 3 patients. |
| Remarks |
Deficient heparan sulfate sulfatase; compound heterozygote; one allele carries the delC mutation at nucleotide 1091 in the SGSH (mps3a) gene (1091delC); no changes detected in the other allele |
| Magat J, Jones S, Baridon B, Agrawal V, Wong H, Giaramita A, Mangini L, Handyside B, Vitelli C, Parker M, Yeung N, Zhou Y, Pungor E, Slabodkin I, Gorostiza O, Aguilera A, Lo MJ, Alcozie S, Christianson TM, Tiger PMN, Vincelette J, Fong S, Gil G, Hague C, Lawrence R, Wendt DJ, Lebowitz JH, Bunting S, Bullens S, Crawford BE, Roy SM, Woloszynek JC, Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction The Journal of biological chemistry298:102625 2022 |
| PubMed ID: 36306823 |
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| Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ, Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet6:1573-1579 1997 |
| PubMed ID: 9285796 |
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