Prevalence and implications of fragile X premutation screening in Thailand.
FMR1
Carrier screening
Fragile X syndrome
Intermediate allele
Premutation
Thai
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
01 Nov 2024
01 Nov 2024
Historique:
received:
28
06
2024
accepted:
24
10
2024
medline:
1
11
2024
pubmed:
1
11
2024
entrez:
1
11
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 39482338
doi: 10.1038/s41598-024-77762-3
pii: 10.1038/s41598-024-77762-3
doi:
Substances chimiques
Fragile X Mental Retardation Protein
139135-51-6
FMR1 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
26257Subventions
Organisme : Faculty of Medicine, Prince of Songkla University
ID : 356/63-00646
Informations de copyright
© 2024. The Author(s).
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