Description:
PELIZAEUS-MERZBACHER DISEASE; PMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Pharmacogenetics |
| Class |
Disorders of the Nervous System |
| Alternate IDs |
GM17327 [PELIZAEUS-MERZBACHER DISEASE; PMD] |
| 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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ITALIAN
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Family Member
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3
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Relation to Proband
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sister
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
R296C; S486T; DEBRISOQUINE, ULTRARAPID METABOLISM OF |
| Identified Mutation |
ARG296CYS AND SER486THR |
| Remarks |
Two brothers are affected |
| Gencic S, Abuelo D, Ambler M, Hudson LD, Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet45:435-42 1989 |
| PubMed ID: 2773936 |
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