New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
Am J Med Genet
; 43(3): 642-6, 1992 Jun 01.
Article
in En
| MEDLINE
| ID: mdl-1376553
ABSTRACT
A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site. It is concordant with the disease in this family. One-hundred-ten unrelated X chromosomes are negative for this mutation. No other sequence defect was found in the PLP exons of the affected males. The cause of disease in this family remains unknown, but the association between this rare mutation and PMD is intriguing. The mutation can serve as a marker for following segregation of the PLP gene.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Diffuse Cerebral Sclerosis of Schilder
/
Exons
/
Myelin Proteins
Limits:
Humans
/
Male
Language:
En
Journal:
Am J Med Genet
Year:
1992
Type:
Article