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 |
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| Gene |
PLP1 |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
300401.0014; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
THR42ILE; Pratt et al. [Am. J. Med. Genet. 58: 70 (1995)] described a thr42-to-ile mutation which they could determine had originated de novo in the X chromosome contributed by the maternal great-grandfather of the propositus. This was determined from the pattern of inheritance of the AhaII polymorphism and a series of microsatellite markers located near PLP on Xq22. |
| Remarks |
Clinically affected; nystagmus from birth; respiratory difficulty noted at one month of age; BSAER showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; MRI scan at age 13 months was extremely abnormal with poor myelination of white matter; EMG showed no involvement of peripheral nervous system; at age 4 years, subject unable to sit, speak, or feed himself; donor subject is hemizygous for a C>T transition at nucleotide 125 in exon 2 of the PLP1 gene [125C>T] resulting in a substitution of isoleucine for threonine at codon 42 [Thr42Ile (T42I)].
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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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