Intractable Rare Dis Res. 2021;10(1):11-16. (DOI: 10.5582/irdr.2020.03101)

Surveillance and prevalence of fragile X syndrome in Indonesia

Sihombing NRB, Winarni TI, Utari A, van Bokhoven H, Hagerman RJ, Faradz SMH


Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disability (ID) and autism spectrum disorder (ASD). Many studies have been conducted over the years, however, in Indonesia there is relatively less knowledge on the prevalence of FXS. We reviewed all studies involving FXS screening and cascade testing of the high-risk population in Indonesia for two decades, to elucidate the prevalence, as well as explore the presence of genetic clusters of FXS in Indonesia. The prevalence of FXS in the ID population of Indonesia ranged between 0.9-1.9%, while in the ASD population, the percentage was higher (6.15%). A screening and cascade testing conducted in a small village on Java Island showed a high prevalence of 45% in the ID population, suggesting a genetic cluster. The common ancestry of all affected individuals was suggestive of a founder effect in the region. Routine screening and subsequent cascade testing are essential, especially in cases of ID and ASD of unknown etiology in Indonesia.

KEYWORDS: fragile X syndrome, intellectual disability, genetic screening, cascade testing

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