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 |
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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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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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| PDL at Freeze |
4.78 |
| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase 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 |
605270.0001; SANFILIPPO SYNDROME A |
| Identified Mutation |
ARG245HIS; A G-to-A transition at nucleotide position 746 of the sulfamidase gene is responsible for the missense mutation which changes arginine-245 to a histidine (R245H). |
| Remarks |
Mental retardation; no language; spastic gait, coarse facies; typical roentgen bone findings; deficient heparan-N-sulfatase; donor subject is a compound heterozygote: one allele carries a G>A transition at nucleotide 746 (746G>A) in the SGSH gene [Arg 245His (R245H)]; no changes detected in other allele; same subject as GM27162 (stem cell). |
| 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 |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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