Article
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.
American journal of medical genetics - 24 Jul 1998
Orrico A, Galli L, Dotti M T, Plewnia K, Censini S, Federico A
Abstract excerpt
The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene, associated with hypermethylation of the proximal CpG island. An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normal-s...
Topics
- Adult
- Alleles
- Blotting, Southern
- CpG Islands
- DNA Methylation
- Exons
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Humans
- Male
- Mosaicism
- Mutation
- Nerve Tissue Proteins
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Sequence Deletion
- Trinucleotide Repeat Expansion