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 normalsized
✦ LIBER ✦
Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event
✍ Scribed by Ferreira, Susana Isabel; Pires, Luís Miguel; Ferrão, José; Sá, Joaquim; Serra, Armando; Carreira, Isabel Marques
- Book ID
- 121723925
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 502 KB
- Volume
- 527
- Category
- Article
- ISSN
- 0378-1119
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The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5 untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absence of production of FMR1 protein (FMRP). Such expans