ArticleEuropean journal of human genetics : EJHG2011
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- Review
- Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.Pediatric research · 2023Article
- Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.International journal of molecular sciences · 2021Review
- Article
- Effect of AGG Interruptions onFrontiers in molecular biosciences · 2020Article
- FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.Cerebellum (London, England) · 2016Article
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015Article
Corrections and comments
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Authors and funding
8 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the last few years, several studies have reported an excess of intermediate FMR1 alleles in patients with cognitive and/or behavioural phenotypes. Here, we report the frequency of intermediate alleles (IAs) in three pathologies, intellectual disabilities (IDs), attention-deficit/hyperactivity disorder and autism, from different Spanish regions. We found 142 IAs among 9015 patients with ID (1.6%), 4 among the 415 ADHD patients (0.96%) and 4 among the 300 autistic patients (1.3%), similar to the frequency reported in our control population. No evidence was found of an excess of IA at the FRAXA locus in any of the study populations, although geographical variability was detected. Moreover, the analysis of 100 transmissions of IAs showed that 95% of these alleles were stable. Only 3% expanded within the same range and 2% expanded to a full mutation in two generations. No evidence of an association between IAs and behavioural or cognitive phenotypes was found, suggesting that IAs are not clearly implicated in these pathologies.
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