Description:
OCULOPHARARYNGEAL MUSCULAR DYSTROPHY; OPMD
POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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FRENCH CANADIAN
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
PABPN1 |
| Chromosomal Location |
14q11.2-q13 |
| Allelic Variant 1 |
602279.0001; OCULOPHARYNGEAL MUSCULAR DYSTROPHY |
| Identified Mutation |
(GCG)n EXPANSION, (GCG)8-13 |
| |
| Gene |
PABPN1 |
| Chromosomal Location |
14q11.2-q13 |
| Allelic Variant 1 |
602279.0001; OCULOPHARYNGEAL MUSCULAR DYSTROPHY |
| Identified Mutation |
(GCG)n EXPANSION, (GCG)8-13 |
| Remarks |
Clinically affected; diagnosed at age 47 years; mild bilateral ptosis; poor ability to swallow cold liquids; some weakness in legs; difficulty walking on her heels; PABP2 gene testing revealed one allele with 9 GCG repeats (expanded) and one allele with 6 GCG repeats (normal); Family history: mother, maternal aunt, two maternal cousins; maternal grandmother (and many of maternal grandmother’s siblings) are also affected. |
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