Genetic cluster of fragile X syndrome in a Colombian district.

Wilmar Saldarriaga-GilJose Vicente Forero-ForeroLaura Yuriko González-TeshimaAndrés Fandiño-LosadaCarolina IsazaJose Rafael Tovar-CuevasMarisol SilvaNimrah S ChoudharyHiu-Tung TangSergio Aguilar-GaxiolaRandi J HagermanFlora Tassone

Published in: Journal of human genetics (2018)

This study shows that in Ricaurte the carrier frequencies of FMR1 expanded alleles (premutations and FMs) are higher than those reported in the literature, suggesting that Ricaurte constitutes a genetic cluster of FXS.

Keyphrases

genome wide
tyrosine kinase
systematic review
copy number
south africa
dna methylation