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
dbGaP |
| 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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Ethnicity
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GERMAN/IRISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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arr Xq22.1q22.2(102358186-103210571)x2
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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 |
300401.0021; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
DUP; Although linkage analysis had shown homogeneity at the PLP1 gene in patients with PMD (312080), exonic mutations in the PLP1 gene had been identified in only 10 to 25% of all cases. Using comparative multiplex PCR (CM-PCR) as a semiquantitative assay of gene dosage, Inoue et al. (Hum Genet 59:32-9, 1996) examined 5 families with PMD who did not carry exonic mutations in PLP1 gene. PLP1 gene duplications were identified in 4 families by CM-PCR and confirmed in 3 families by densitometric RFLP analysis. The authors suggested that PLP gene overdosage may be an important abnormality in PMD and may affect myelin formation. |
| Remarks |
Clinically affected; onset at age 3 mo; diagnosed at age 7 mo; height, weight, & head circumference <5th %ile; constant coarse head tremor; visual handicap; nystagmus; quadriparesis; developmental delay; similarly affected brother; son of GM11002; donor subject has a duplication of the PLP1 gene |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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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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