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NA13436 DNA from LCL

Description:

PELIZAEUS-MERZBACHER DISEASE; PMD
PROTEOLIPID PROTEIN 1; PLP1

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
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)].

Characterizations

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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 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.

Phenotypic Data

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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)].

Publications

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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

External Links

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dbSNP dbSNP ID: 11787
Gene Cards PLP
PLP1
NCBI Gene Gene ID:5354
NCBI GTR 300401 PROTEOLIPID PROTEIN 1; PLP1
312080 PELIZAEUS-MERZBACHER DISEASE; PMD
OMIM 300401 PROTEOLIPID PROTEIN 1; PLP1
312080 PELIZAEUS-MERZBACHER DISEASE; PMD
Omim Description LIPOPHILINPELIZAEUS-MERZBACHER DISEASE, INCLUDED; PMD, INCLUDED
  PROTEOLIPID PROTEIN, MYELIN; PLP
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM13436 - B-Lymphocyte
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