Article
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Human molecular genetics - 1 Apr 1994
Meijer H, de Graaff E, Merckx D M, Jongbloed R J, de Die-Smulders C E, Engelen J J, Fryns J P, Curfs P M, Oostra B A
Abstract excerpt
The vast majority of individuals with the fragile X syndrome show expanded stretches of CGG repeats in the 5' non-coding region of FMR1. This expansion coincides with abnormal methylation patterns in that area resulting in the silencing of the FMR1 gene. Evidence is accumulating that this directly causes the fragile X phenotype. Very few other mutations in FMR1, causing the fragile X phenotype have been reported...
Topics
- Alleles
- Base Sequence
- Child, Preschool
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Expression
- Genes
- Humans
- Intellectual Disability
- Male