Evidence map›Paper›PMID 39482338›Full record

ArticleScientific reports2024

Prevalence and implications of fragile X premutation screening in Thailand.

Areerat Hnoonual, Sunita Kaewfai, Chanin Limwongse, Pornprot Limprasert

Abstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Chronic pain, fatigue, and emotional distress in femaleFrontiers in molecular neuroscience · 2026
    Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Areerat HnoonualDivision of Molecular Pathology, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
Sunita KaewfaiDepartment of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
Chanin LimwongseDivision of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Pornprot LimprasertDivision of Molecular Pathology, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand. pornprot.l@psu.ac.th.

Funding

Faculty of Medicine, Prince of Songkla University 356/63-00646
6 · The paper itself

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.

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeMutationTrinucleotide Repeat ExpansionAdultAgedAllelesFemaleGenetic TestingHumansMaleMiddle AgedPrevalenceThailandYoung AdultFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Carrier screeningFMR1Fragile X syndromeIntermediate allelePremutationThai

Identifiers

PMID39482338
PMCPMC11527874

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.