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Journal of Assisted Reproduction and Genetics

Open Access 25-09-2024 | Genetics

Population-based FMR1 carrier screening among reproductive women

Authors: Quratul Ain, Ye Hyun Hwang, Daryl Yeung, Pacharee Panpaprai, Wiwat Iamurairat, Wiboon Chutimongkonkul, Objoon Trachoo, Flora Tassone, Poonnada Jiraanont

Published in: Journal of Assisted Reproduction and Genetics

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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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Metadata
Title
Population-based FMR1 carrier screening among reproductive women
Authors
Quratul Ain
Ye Hyun Hwang
Daryl Yeung
Pacharee Panpaprai
Wiwat Iamurairat
Wiboon Chutimongkonkul
Objoon Trachoo
Flora Tassone
Poonnada Jiraanont
Publication date
25-09-2024
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-024-03242-2