Article
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
The Journal of molecular diagnostics : JMD - 1 Jul 2009
Fernandez-Carvajal Isabel, Lopez Posadas Blanca, Pan Ruiqin, Raske Christopher, Hagerman Paul J, Tassone Flora
Abstract excerpt
Fragile X Syndrome is caused by the expansion of an unstable CGG-repeat tract in the 5'-UTR of the FMR1 gene, which generally results in transcriptional silencing and consequent absence of the FMR1 protein. To date, the smallest premutation allele reported to expand to a full mutation allele in a single generation is 59 CGG repeats. Here, we report a single-generation expansion to a full mutation allele (male...
Topics
- Alleles
- DNA Mutational Analysis
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Male
- Mutation
- Pedigree
- Trinucleotide Repeat Expansion