Fragile X Syndrome: Prevalence, Treatment, and Prevention in China

Niu, Manman; Han, Ying; Dy, Angel Belle C.; Du, Junbao; Huang, Jin; Qin, Jiong; Zhang, Jing; Li, Qinrui; Hagerman, Randi J.

doi:10.3389/fneur.2017.00254

Cited by 11 publications

(9 citation statements)

References 39 publications

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“…Population-based studies have well investigated the prevalence of the fragile X PM carriers among preconception/pregnant women in different populations. The prevalence rates observed were 0.13% in Korean women [ 18 ] 0.08 to 0.13% in Chinese women [ 19 , 36 ], 0.04 to 0.27% % in Australian women [ 31 ], 0.88% to 1.3% in Israeli women [ 29 , 37 ], 0.9% in Spanish women [ 38 ]. The overall prevalence rate of fragile X PM carriers was observed 0.7% in this study.…”

Section: Discussionmentioning

confidence: 99%

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

et al. 2022

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Purpose Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5′-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM alleles to full mutation alleles (> 200 repeats) during maternal transmission. Methods In present study fragile X PM carrier screening was performed in total 808 women who were consulting primary health care centers for preconception care in Khyber Pakhtunkhwa region of Pakistan between April, 2018 and December, 2020. Polymerase chain reaction (PCR) was performed for detection of PM carrier women and the CGG repeats number was confirmed by Southern blotting and capillary electrophoresis. Results The prevalence rate for PM carriers among preconception women was found to be 0.7% that was contributed by 0.5% women in risk group (RG1) with family history of ID and 0.2% in risk group 2 (RG2) with family history of ASD. PM carrier women had at least one affected child or sibling. In addition, the preconception women with FMR1 PM alleles were found to be at increased risk for primary ovary insufficiency (RG1: P = 0.0265, RG2: P = 0.0389), postpartum depression (RG1: P = 0.0240, RG2: P = 0.0501) and neuropsychiatric disorders (RG1: P = 0.0389, RG2: P = 0.0432). Conclusions Current study provides first evidence of fragile X PM carrier screening in Pakistani preconception women in primary care consultation. Findings of current study may help to improve preconception care and to reduce burden of fragile X associated disorders in our population.

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Section: Discussionmentioning

confidence: 99%

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

et al. 2022

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“…Fragile X Syndrome is associated with Cytosine-Guanine-Guanine (CGG) repeat sequence expansion located in the 5 untranslated region (UTR) in the Fragile X Mental Retardation gene 1 (FMR1), at the Xq27 position [8,9]. This expansion which accounts for over 98% of all FXS cases exist in four allelic forms base on the length of the CGG repeats: normal , intermediate (45-55), pre-mutation (56-200), and full mutation (>200) [10][11][12]. Individuals with a full mutation may have methylated FMR1 genes which turn off the production of mRNA that will translate to protein.…”

Section: Introductionmentioning

confidence: 99%

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Kamga

Nguefack

Minka

et al. 2020

Genes

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Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.

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“…However, not many hospitals and institutions in Africa can perform genetic testing for FMR1 mutations. Therefore, many African FXS patients may have gone undiagnosed due to the reliance on clinical signs and symptoms (6,7) and no referral of patients to specialized centers (6). The low uptake of genetic test in African settings could also be due to scarce medical genetics specialist in many African countries.…”

Section: Introductionmentioning

confidence: 99%

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

et al. 2020

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Fragile X Syndrome (FXS) is the most common x-linked monogenic cause of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Taking care of children with ID is challenging and overwhelming due to the multiple facets of caregiving. This scoping review aimed at summarizing the qualitative literature on the experiences of families living with FXS, identify key themes and determine the gaps in the extant literature. We conducted a literature search in May 2019 using four databases; PubMed, Web of Science, African-Wide-Information, and Scopus. The keywords used in our search strategy were associated with caregivers, lived experiences, FXS, and qualitative research. All English language articles with full-text reporting were included. Studies associated with other neurodevelopmental conditions and quantitative studies were excluded. We identified 12 out of 203 articles that described the lived experiences of families with FXS. Most articles originated from the United States of America and mothers were the main caregivers. We summarized our findings into four major themes which are; grief experiences, challenges of living with FXS, coping mechanisms and the need to plan for future outcomes. This scoping review highlights the scarcity of qualitative FXS literature in the African population and frustrations endured by families with FXS due to the low knowledge of FXS by healthcare workers. More research is needed to evaluate the impact of living with FXS in males and fathers.

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Fragile X Syndrome: Prevalence, Treatment, and Prevention in China

Cited by 11 publications

References 39 publications

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

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