NA01094
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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Family Member
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1
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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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 |
605270.0007; SANFILIPPO SYNDROME A |
| Identified Mutation |
9-BP DEL, NT1307; In a patient with Sanfilippo syndrome A (252900), Blanch et al. (1997) found a 9-bp deletion of the SGSH gene, beginning at nucleotide 1307. This deletion resulted in the last 2 bases of codon 432 being changed from AC to GC, leading to a tyrosine-to-tryptophan substitution (Y432W). Additionally, the next 3 amino acids (arg433, ala434, and arg435) were deleted before restoration of the normal reading frame at trp436. |
| Remarks |
Deficient heparan sulfate sulfatase; normal N-acetyl-alpha-glucosaminidase; same patient as GM01739; compound heterozygote; one allele carriers 9 bp deletion at nucleotide 1307 (1307del9) of the SGSH gene; no changes in other allele |
| 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 |
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| Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ, Molecular defects in Sanfilippo syndrome type A. Hum Mol Genet6:787-91 1997 |
| PubMed ID: 9158154 |
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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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