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 |
| 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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Family Member
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2
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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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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 |
300401.0002; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
TRP162ARG; In the family with classic PMD investigated by Koeppen et al. (1987), Hudson et al. (1989) found a T-to-C transition resulting in the substitution of a charged amino acid residue, arginine, for tryptophan in 1 of the 4 hydrophobic domains of the PLP protein. A change of CGG to TGG in exon 4 was responsible for the substitution of trp162.
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| Remarks |
Epilepsy; visual. handicap. since age 6 mos, obviously blind; striking optic atrophy; no retin. pigmentos., no cherry red spot; limited speech; atrophy of the extremities; total areflexia; scoliosis; pt. has gastrostomy; pos. family history; donor subject has a T>C transition at nucleotide 608 (608T>C) in exon 4 of the PLP1 gene resulting in a substitution of arginine for tryptophan at codon 163 [Trp163Arg (W163R)]; this mutation has also been described as Trp162Arg (see Koeppen et al, Ann Neurol 21:159-170, 1987) |
| Koeppen AH, Ronca NA, Greenfield EA, Hans MB, Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol21:159-70 1987 |
| PubMed ID: 3827224 |
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