Population-based FMR1 Carrier Screening Among Reproductive Women

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2024 Sep 25

PMID 39320553

Authors

Quratul Ain

Ye Hyun Hwang

Daryl Yeung

Pacharee Panpaprai

Wiwat Iamurairat

Wiboon Chutimongkonkul

Objoon Trachoo

Flora Tassone

Poonnada Jiraanont

Affiliations

Soon will be listed here.

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.

Citing Articles

Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.

Genovese A, Butler M Genes (Basel). 2025; 16(2).

PMID: 40004478 PMC: 11855108. DOI: 10.3390/genes16020149.

Prevalence and implications of fragile X premutation screening in Thailand.

Hnoonual A, Kaewfai S, Limwongse C, Limprasert P Sci Rep. 2024; 14(1):26257.

PMID: 39482338 PMC: 11527874. DOI: 10.1038/s41598-024-77762-3.

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