Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline
Julián Ramírez‐Cheyne,
Diana López,
César Payán‐Gómez
et al.
Abstract:The FMR1 5′ regulation gene region harbors a CGG trinucleotide repeat expansion (CGG‐TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the present study, using next‐generation sequencing of whole exome capture, we genotype 55 individuals from R… Show more
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