Description:
PELIZAEUS-MERZBACHER DISEASE; PMD
PROTEOLIPID PROTEIN 1; PLP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| 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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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
PLP1 |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
G127G; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
GLY127GLY |
| Remarks |
Clinically affected; jerky eye movements about age 3 months; head bobbing; rotary nystagmus; developmental delay; moderate hypotonia; truncal titubation; dysmetria and tremor; donor subject is hemizygous for a C>G transversion at nucleotide 381 in exon 3 of the PLP1 gene [381C>G] resulting in the retention of glycine at codon 127 [Gly127Gly (G127G)].
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| Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR, Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease Clinical chemistry52:1267-75 2006 |
| PubMed ID: 16644873 |
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| Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR, New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. Am J Med Genet43:642-6 1992 |
| PubMed ID: 1376553 |
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