Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
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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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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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 Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| N-acetylgalactosamine-4-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12; 5% activity. |
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| Remarks |
Clinically affected; bilateral corneal clouding; 3cm liver; prominent eyes, forehead, and tongue; widely-spaced peg-like teeth; flat nasal bridge; joint contractures (knees-20 degrees, elbows-10 degrees); lumbar lordosis; externally rotated femurs; slightly stiff and swollen fingers; 5% of normal arylsulfatase B activity, consistent with homozygosity; family history reveals that parents are related through their grandfather; unaffected mother (GM03720-fibro, GM03721-lymph); unaffected father (GM03724-fibro, GM03725-lymph); unaffected sister (GM03726-fibro) and unaffected half-siblings (not in repository); see GM03722-fibroblast (same donor). |
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