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INSTITUTE OF MOLECULAR GENETICS
AND GENETIC ENGINEERING
University of Belgrade

Enabling the first registry of individuals with Fragile X-associated disorders and better assessment of future testing/screening needs in Serbia

Asuragen, Austin, Texas, USA, 2020-2024
Principal Investigator: Dr  Dragana Protic, Institute of Pharmacology, Clinical Pharmacology and Toxicology, School of Medicine, University of Belgrade
Participants from IMGGE: Academician Milena Stevanovic, dr Marija Mojsin, dr Isidora Petrovic, dr Andrijana Lazic 

The testing of mutations of the FMR1 gene (FX testing) provides genetic diagnoses of fragile X-associated disorders (FXD), which includes Fragile X Syndrome (FXS), Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and Fragile X Primary Ovarian Insufficiency (FXPOI), respectively. The full-mutation (FM; CGG triplets>200) causes FXS, while some premutation “carriers” (PM; CGG triplets: 55-200) are at-risk to develop FXTAS and FXPOI. Affecting up to 1:2.500 boys in general population, FXS arises from epigenetic silencing of the FMR1 gene leading to a loss of FMR1 gene expression and its protein (FMRP). FXS is the most common cause of heritable intellectual disability. In general population, the prevalence of PM is 10 times higher than the FM, in up to 1:150 women and 1:400 men, with 1.5 million individuals in the US, and over 20 million worldwide. FXTAS results in cognitive, gait and motor deficits in approximately 40-50% of men with PM and 16% of women with PM, with an average age of onset of 62 years. FXPOI occurs in about 20-25% of adult female with PM. About 2% (1 in 50) of women with ovarian insufficiency are found to have PM of the FMR1 gene, as do about 7% (1 in 15) of those with a personal and family history of ovarian insufficiency. The overall goal of proposed project is to conduct a screening study of the FMR1 gene pre- and full mutation in large cohort (≈1000 individuals) to enable the first registry of these identified patients with the FMR1 gene’s mutations in Serbia as well as the first biorepository of their blood samples. In addition, the results of this study will serve in order to introduce FX testing in regular healthcare system in Serbia and the entire region, as well.

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