Jiraanont, Poonnada

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Jiraanont, Poonnada
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Email
poonnada.ji@kmitl.ac.th

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    Item type:Publication,
    De Novo Large Deletion Leading to Fragile X Syndrome
    (2022-05-11)
    Jiraanont, Poonnada
    ;
    Manor, Esther
    ;
    Tabatadze, Nazi
    ;
    Zafarullah, Marwa
    ;
    Mendoza, Guadalupe
    Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene have been described and account for approximately 1% of individuals with FXS. Here, we report a 7-year-old boy with FXS with a de novo deletion of approximately 1.1 Mb encompassing several genes, including the FMR1 and the ASFMR1 genes, and several miRNAs, whose lack of function could result in the observed proband phenotypes. In addition, we also demonstrate that FMR4 completely overlaps with ASFMR1, and there are no sequencing differences between both transcripts (i.e., ASFMR1/FMR4 throughout the article).
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    Item type:Publication,
    Acceptance and attitudes towards carrier and prenatal screening for fragile X syndrome among reproductive-aged Thai women: a cross-sectional study
    (2026-01-01)
    Tassanakijpanich, Nattaporn
    ;
    Chumchuen, Kemmapon
    ;
    Panpaprai, Pacharee
    ;
    Iamurairat, Wiwat
    ;
    Chutimongkonkul, Wiboon
    Objectives: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, but Thailand lacks a carrier screening programme. We assessed knowledge, attitudes, and acceptance of FXS carrier and prenatal screening among reproductive-aged Thai women, exploring socio-demographic correlates. Methods: This study was conducted at a drop-in clinic, Department of Obstetrics and Gynecology of a Tertiary Hospital, where eligible women watched a 3-min educational video, and then completed a questionnaire evaluating knowledge, screening acceptance, and four attitude domains (disclosure, policy, relationship, pregnancy continuation). Ordinal logistic regression analysed socio-demographic associations. Results: Post-video, 87% of 772 women understood FXS well. Acceptance was substantial: 82% for carrier screening and 95% for prenatal investigation. Higher education was associated with greater knowledge (adjusted odds ratio [aOR] = 1.66, 95% confidence interval [CI]: 1.23–2.23) and policy support (aOR = 1.83, 95% CI: 1.35–2.48). Older age was associated with lower knowledge (aOR = 0.98, 95% CI: 0.96–1.00), disclosure intent (aOR = 0.98, 95% CI: 0.96–1.00), and agreement in continuing an affected pregnancy (aOR = 0.97, 95% CI: 0.95–0.99). Conclusion: Brief educational interventions can support informed acceptance of FXS screening. To support the diverse reproductive options, Thailand should implement publicly funded voluntary screening with culturally sensitive genetic counselling.