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 |
300401.0003; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
PRO14LEU; By the polymerase chain reaction (PCR), Trofatter et al. [Cytogenet. Cell Genet. 51:1093(abstract) (1989)] amplified, cloned and sequenced the exons of the PLP gene in a male with PMD from an extensively affected Indiana family. They found a basepair transition from C-to-T at the 40th nucleotide of the second exon. In a second, unrelated PMD kindred with a milder form of disease, the C-to-T transition was not found. They found perfect linkage between the C-to-T transition and disease in this kindred; lod score = 4.27 at theta = 0.0. The C-to-T mutation predicted a substitution of proline for leucine. |
| Remarks |
Clinically affected; typical connatal Pelizaeus-Merzbacher disease; donor subject is hemizygous for a C>T transition at nucleotide 40 in exon 2 of the PLP1 gene [40C>T] resulting in a substitution of leucine for proline at codon 14 [Pro14Leu (P14L)].
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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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| Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME, Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci U S A86:9427-30 1989 |
| PubMed ID: 2480601 |
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| ZEMAN W, DEMYER W, FALLS HF, PELIZAEUS-MERZBACHER DISEASE A STUDY IN NOSOLOGY Journal of neuropathology and experimental neurology23:334-54 1964 |
| PubMed ID: 14137679 |
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