Article
Normal phenotype in two brothers with a full FMR1 mutation.
Human molecular genetics - 1 Nov 1995
Smeets H J, Smits A P, Verheij C E, Theelen J P, Willemsen R, van de Burgt I, Hoogeveen A T, Oosterwijk J C, Oostra B A
Abstract excerpt
The fragile X syndrome is associated with an expanding CGG repeat in the 5' untranslated region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region inhibits expression of the FMR1 gene. In two clinically normal brothers large, expanded CGG repeats and cytogenetically...
Topics
- Adolescent
- Adult
- Aged
- Chromosome Mapping
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Expression
- Humans
- Male
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Phenotype
- RNA-Binding Proteins
- Trinucleotide Repeats