AI Article Synopsis
- Fragile X syndrome (FXS) is a genetic disorder caused by an expansion of CGG repeats in the FMR1 gene, affecting neurodevelopment and passed on through female carriers who have a premutation (PM).
- A study in Thailand analyzed 1250 reproductive-age women, discovering a low prevalence of PM carriers at about 0.17% and identifying three women with gray zone alleles (0.25%).
- The findings emphasize the need for PM carrier screening among women of reproductive age to improve family planning and reproductive health, particularly to mitigate risks like fragile X-associated primary ovarian insufficiency (FXPOI).
Article Abstract
Purpose: Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55-200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring.
Methods: Carrier screening for FMR1 PM is not available in Thailand. This study aimed to investigate the prevalence of PM carriers among Thai reproductive women at the tertiary hospital. A total of 1250 females participated in this study; ages ranged from 20 to 45 years, mean of 30 years (S.D. = 6.27).
Results: Two carriers of a premutation allele, with 32,62 and 32,69 CGG repeats respectively, were identified. This corresponds to 1 in 600 women or 0.17% of the population. Further, three women carrying a gray zone allele (45-54 CGG repeats) were identified (29,51; 29,49; and 30,47 CGG repeats) which equals to 1:400 women or 0.25% of the population. No FM case was detected.
Conclusions: This study heightens the importance of PM carrier screening of women of reproductive age, particularly for the higher risk of developing fragile X-associated primary ovarian insufficiency (FXPOI). Early identification of PM carrier status enhances family planning and fecundity alternatives and improves reproductive health outcomes leading to a better life.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621265 | PMC |
| http://dx.doi.org/10.1007/s10815-024-03242-2 | DOI Listing |
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