ArticleAmerican journal of human genetics1999
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Telehealth-enabled behavioral treatment for problem behaviors in boys with fragile X syndrome: a randomized controlled trial.Journal of neurodevelopmental disorders · 2020Trial
- Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome.Psychoneuroendocrinology · 2012Trial
- Differential Effects of a Behavioral Treatment Probe on Social Gaze Behavior in Fragile X Syndrome and Non-Syndromic Autism Spectrum Disorder.Journal of autism and developmental disorders · 2024Article
- Behavioural, psychiatric, and cognitive phenotypes associated with numbers of repeats of the FRAXE allele on the FMR2 gene.Wellcome open research · 2024Article
- Increased iron content in the heart of the Fmr1 knockout mouse.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2021Article
- Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.Scientific reports · 2021Article
- Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.Neuroscience and biobehavioral reviews · 2021Review
- Screening forBioMed research international · 2021Article
- Article
- The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).Wellcome open research · 2019Article
- Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.Cerebellum (London, England) · 2016Article
- Defining the role of the CGGBP1 protein in FMR1 gene expression.European journal of human genetics : EJHG · 2016Article
- Examining the neural correlates of emergent equivalence relations in fragile X syndrome.Psychiatry research · 2015Article
- Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.PloS one · 2015Article
- Fragile X spectrum disorders.Intractable & rare diseases research · 2014Review
- In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Article
- FMR1 CGG expansions: prevalence and sex ratios.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013Article
- Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles.NeuroImage · 2013Article
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Authors and funding
13 authors.
Funding
Abstract
We conducted a large population-based survey of fragile X (FRAXA) syndrome in ethnically diverse metropolitan Atlanta. The eligible study population consisted of public school children, aged 7-10 years, in special education-needs (SEN) classes. The purpose of the study was to estimate the prevalence among whites and, for the first time, African Americans, among a non-clinically referred population. At present, 5 males with FRAXA syndrome (4 whites and 1 African American), among 1,979 tested males, and no females, among 872 tested females, were identified. All males with FRAXA syndrome were mentally retarded and had been diagnosed previously. The prevalence for FRAXA syndrome was estimated to be 1/3,460 (confidence interval [CI] 1/7,143-1/1,742) for the general white male population and 1/4, 048 (CI 1/16,260-1/1,244) for the general African American male population. We also compared the frequency of intermediate and premutation FRAXA alleles (41-199 repeats) and fragile XE syndrome alleles (31-199 repeats) in the SEN population with that in a control population, to determine if there was a possible phenotype consequence of such high-repeat alleles, as has been reported previously. No difference was observed between our case and control populations, and no difference was observed between populations when the probands were grouped by a rough estimate of IQ based on class placement. These results suggest that there is no phenotype consequence of larger alleles that would cause carriers to be placed in an SEN class.
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