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NA03723 DNA from LCL

Description:

MUCOPOLYSACCHARIDOSIS TYPE VI

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
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Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
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.
 

Phenotypic Data

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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).

External Links

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dbSNP dbSNP ID: 10690
Gene Ontology GO:0003943 N-acetylgalactosamine-4-sulfatase activity
GO:0004065 arylsulfatase activity
GO:0005509 calcium ion binding
GO:0005764 lysosome
GO:0007041 lysosomal transport
GO:0008152 metabolism
GO:0016787 hydrolase activity
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:411
NCBI GTR 253200 MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
OMIM 253200 MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
Omim Description ARSB DEFICIENCY
  ARYLSULFATASE B DEFICIENCY
  MAROTEAUX-LAMY SYNDROME
  MPS VI; MPS6
  MUCOPOLYSACCHARIDOSIS TYPE VI
  N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCYARYLSULFATASE B, INCLUDED; ARSB, INCLUDED

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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