Prevalence and implications of fragile X premutation screening in Thailand
Issued Date
2024-11-01
Resource Type
eISSN
20452322
Scopus ID
2-s2.0-85208291074
Pubmed ID
39482338
Journal Title
Scientific reports
Volume
14
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
Scientific reports Vol.14 No.1 (2024) , 26257
Suggested Citation
Hnoonual A., Kaewfai S., Limwongse C., Limprasert P. Prevalence and implications of fragile X premutation screening in Thailand. Scientific reports Vol.14 No.1 (2024) , 26257. doi:10.1038/s41598-024-77762-3 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/101998
Title
Prevalence and implications of fragile X premutation screening in Thailand
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Abstract
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.