Prevalence and implications of fragile X premutation screening in Thailand.

Autor: Hnoonual A; Division of Molecular Pathology, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.; Genomic Medicine Center, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand., Kaewfai S; Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand., Limwongse C; Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Genomics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Limprasert P; Division of Molecular Pathology, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand. pornprot.l@psu.ac.th.; Genomic Medicine Center, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand. pornprot.l@psu.ac.th.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Nov 01; Vol. 14 (1), pp. 26257. Date of Electronic Publication: 2024 Nov 01.
DOI: 10.1038/s41598-024-77762-3
Abstrakt: The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially reducing the incidence of fragile X syndrome (FXS). This study aimed to determine the prevalence of FMR1 premutations in the Thai population. We screened 369 female blood donors and 449 males with tremor and/or ataxia who tested negative for spinocerebellar ataxia (SCA) types 1, 2, and 3 for FMR1 CGG repeat expansions. Among the female blood donors, 0.27% (1/369) had a premutation allele, and 1.08% (4/369) had intermediate alleles. One female with a premutation carrier had 89 CGG repeats with one AGG interruption. In the male cohort, no premutations or full mutations were found; however, intermediate alleles were identified in 0.67% (3/449) of the males. This study provides the evidence of fragile X premutation screening in the Thai population. These findings contribute to the understanding of FMR1 premutation prevalence in Thailand and should encourage wider discussions on the feasibility for a national fragile X carrier screening program in Thailand to reduce the burden of fragile X-associated disorders.
(© 2024. The Author(s).)
Databáze: MEDLINE
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