Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Laia Rodriguez-Revenga, Irene Madrigal, Javier Pagonabarraga, Mar Xunclà, Celia Badenas, Jaime Kulisevsky, Beatriz Gomez, Montserrat Milà

Producció científica: Contribució a una revistaArticleRecercaAvaluat per experts

247 Cites (Scopus)

Resum

Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that ∼20% of female premutation carriers present primary ovarian insufficiency (POI) and that fragile X-associated tremor/ataxia syndrome (FXTAS) occurs in one-third of all male premutation carriers older than 50 years. Besides POI and FXTAS, new disorders have recently been described among individuals (especially females) with the FMR1 premutation. Those pathologies include thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia. However there are few reports related to FXTAS penetrance among female premutation carriers or regarding these disorders recently associated to the FMR1 premutation. Therefore, we have evaluated 398 fragile X syndrome (FXS) families in an attempt to provide an estimation of the premutation associated phenotypes penetrance. Our results show that signs of FXTAS are detected in 16.5% of female premutation carriers and in 45.5% of premutated males older than 50 years. Furthermore, among females with the FMR1 premutation, penetrance of POI, thyroid disease and chronic muscle pain is 18.6, 15.9 and 24.4%, respectively. The knowledge of this data might be useful for accurate genetic counselling as well as for a better characterization of the clinical phenotypes of FMR1 premutation carriers.
Idioma originalEnglish
Pàgines (de-a)1359-1362
RevistaEuropean Journal of Human Genetics
Volum17
Número10
DOIs
Estat de la publicacióPublicada - 16 d’abr. 2009

Fingerprint

Navegar pels temes de recerca de 'Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families'. Junts formen un fingerprint únic.

Com citar-ho