Abstract
Abstract
Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between September 2014 and May 2017 to determine the prevalence of FXS carriers in a large Chinese cohort of pregnant women. The FMR1 CGG repeat status was determined in 20,188 pregnant Taiwanese women and we identified 26 women with premutation (PM). The PM allele was transmitted to the fetus in 17 pregnancies (56.6%), and six of 17 expanded to full mutation (FM). One asymptomatic woman had a FM allele with 280 CGG repeats. Prenatal genetic diagnosis of her first fetus revealed a male carrying a FMR1 gene deletion of 5′ UTR and exon 1. Her second fetus was a female carrying a FM allele as well. This is so far the largest study of the FXS carrier screening in Chinese women. The prevalence of premutation allele for FXS in normal asymptomatic Taiwanese women was found to be as high as 0.13% (1 in 777) in this study. The empirical evidence suggests that reproductive FXS carrier screening in Taiwan might be cost-effective.
Funder
Ministry of Health and Welfare, Taiwan | Health Promotion Administration, Ministry of Health and Welfare
NTU | Yen Tjing Ling Industrial Research Institute, National Taiwan University
Publisher
Springer Science and Business Media LLC
Reference34 articles.
1. Kremer, E. J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711–1714 (1991).
2. Maddalena, A. et al. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 3, 200–205, doi:10.109700125817-200105000-00010 (2001).
3. Nolin, S. L. et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72, 454–464 (2003).
4. Jacquemont, S., Leehey, M. A., Hagerman, R. J., Beckett, L. A. & Hagerman, P. J. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 43, 804–809,
https://doi.org/10.1136/jmg.2006.042374
(2006).
5. Uzielli, M. L. et al. Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data. Am J Med Genet 84, 300–303 (1999).
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