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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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 |
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| Gene |
PLP1 |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
T115K; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
THR115LYS |
| Remarks |
Clinically affected; childhood onset of pendular nystagmus, progressive spasticity and ataxia; dysarthria; intellectual dysfunction; gradual loss of ambulation; IQ at age 23 years was 70; MRI at age 22 and 25 years showed markedly retarded myelination and large ventricles; donor subject is hemizygous for a C>A transversion at nucleotide 344 in exon 3 of the PLP1 gene [344C>A] resulting in a substitution of lysine for threonine at codon 115 [Thr115Lys (T115K)].
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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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| Nance, Adult-onset neurological disorder in a Pelizaeus-Merzbacher disease carrier mother. Am J Hum Genet53(3):A1745 (1993):1267-75 1993 |
| PubMed ID: 16644873 |
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