Prevalence and implications of fragile X premutation screening in Thailand

• Published in: Scientific reports 2024-11, Vol.14 (1), p.26257-11, Article 26257
• Main Authors: Hnoonual, Areerat, Kaewfai, Sunita, Limwongse, Chanin, Limprasert, Pornprot
• Format: Article
• Language: English
• Subjects: 631/208/1516; 692/308/2056; Adult; Aged; Alleles; Ataxia; Blood; Blood donors; Carrier screening; Feasibility studies; Female; Females; FMR1; FMR1 protein; Fragile X Mental Retardation Protein - genetics; Fragile X syndrome; Fragile X Syndrome - diagnosis; Fragile X Syndrome - epidemiology; Fragile X Syndrome - genetics; Genetic screening; Genetic Testing - methods; Humanities and Social Sciences; Humans; Intellectual disabilities; Intermediate allele; Male; Males; Middle Aged; multidisciplinary; Mutation; Population genetics; Population studies; Premutation; Prevalence; Public health; Science; Science (multidisciplinary); Spinocerebellar ataxia; Thai; Thailand - epidemiology; Tremor; Trinucleotide Repeat Expansion - genetics; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-024-77762-3

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.