ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
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- Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.Epigenomics · 2024Article
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- Defining the 3'Epigenetic Boundary of theInternational journal of molecular sciences · 2023Article
- Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.Pediatric research · 2023Article
- Social and physical predictors of mental health impact in adult women who have anGenetics in medicine open · 2023Article
- Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.Journal of neurodevelopmental disorders · 2022Article
- Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-LinkedInternational journal of molecular sciences · 2021Article
- Article
- Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation.Scientific reports · 2020Article
- Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.Molecular genetics & genomic medicine · 2019Article
- Fragile X syndrome carrier screening in pregnant women in Chinese Han population.Scientific reports · 2019Observational
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.Scientific reports · 2019Article
- Article
- The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).Wellcome open research · 2019Article
- Article
- Curvilinear Association Between Language Disfluency andFrontiers in genetics · 2018Article
- Low normal FMR1 genotype in older adult women: Psychological well-being and motor function.Archives of gerontology and geriatricsArticle
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDevelopmental delay phenotypes have been associated with FMR1 premutation (PM: 55-200 CGG repeats) and "gray zone" (GZ: 45-54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings.
methodsThis study determined the prevalence of PM and GZ alleles in two independent cohorts of 19,076 pediatric referrals to developmental delay diagnostic testing through Victorian Clinical Genetics Service (cohort 1: N = 10,235; cohort 2: N = 8841), compared with two independent general population cohorts (newborn screening N = 1997; carrier screening by the Victorian Clinical Genetics Service prepair program N = 14,249).
resultsPM and GZ prevalence rates were not significantly increased (p > 0.05) in either developmental delay cohort (male PM: 0.12-0.22%; female PM: 0.26-0.33%; male GZ: 0.68-0.69%; female GZ: 1.59-2.13-%) compared with general population cohorts (male PM: 0.20%; female PM: 0.27-0.82%; male GZ: 0.79%; female GZ: 1.43-2.51%). Furthermore, CGG size distributions were comparable across datasets, with each having a modal value of 29 or 30 and ~1/3 females and ~1/5 males having at least one allele with ≤26 CGG repeats.
conclusionThese data do not support the causative link between PM and GZ expansions and developmental-delay phenotypes in pediatric settings.
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