NA06110
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| 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
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.78 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| N-sulfoglucosamine sulfohydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1 |
| |
| 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 |
| |
| 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 |
|
|