Description:
PELIZAEUS-MERZBACHER DISEASE; PMD
PROTEOLIPID PROTEIN 1; PLP1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
ITALIAN
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| MYELIN PROTEINS AND METABOLISM |
Gencic et al (Am J Hum Genet 45:435-442,1989) reported that DNA from a lymphoblastoid culture of this patient showed a single base transition (C to T) in exon 5 of the myelin proteolipid protein gene which causes a serine substitution for proline at the carboxy end of the protein. |
| |
| Gene |
PLP1 |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
300401.0001; PELIZAEUS-MERZBACHER DISEASE |
| Identified Mutation |
PRO215SER; Gencic et al. [Am. J. Hum. Genet. 45: 435 (1989)] described a missense mutation in exon 5 of the PLP gene, with a C-to-T transition creating a serine substitution for proline at the carboxy end of the protein, in a patient with the classic form (type I) of PMD. |
| Remarks |
Clinically affected; poor head control and nystagmus noted at 3 months of age; spastic quadriparesis evident by age 4 years; chorioathetotic movements began between age 8-10 years; optic atrophy; dysconjugate eye movements with jerky vertical and rotatory nystagmus; developed muscle spasms in late teens; at age 22 years weight = 46 pounds, length = 124 cm, and head circumference = 50.5 cm; mild exophthalmos; at age 22 years no longer evidence of nystagmus or chorioathetotic movements; affected brother died of pneumonia at age 10 years; donor subject is hemizygous for a C>T transition at nucleotide 643 in exon 5 of the PLP1 gene [643C>T] resulting in a substitution of serine for proline at codon 215 [Pro215Ser (P215S)].
|
| Kim KP, Yoon J, Shin B, Röpke A, Han DW, Schöler HR, Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease Stem cell research46:101839 2020 |
| PubMed ID: 32446239 |
| |
| Wood PL, Smith T, Pelzer L, Goodenowe DB, Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction Lipids in health and disease10:102 2011 |
| PubMed ID: 21682894 |
| |
| 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 |
| |
| Gencic S, Abuelo D, Ambler M, Hudson LD, Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet45:435-42 1989 |
| PubMed ID: 2773936 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|