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Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/49343
Title: Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes
Authors: Madrigal, I.; Xunclà, Mar; Tejada, María Isabel; Martínez, Francisco; Fernández Carvajal, Mª Isabel; Pérez-Jurado, L. A.; Rodríguez-Revenga, L.; Milà, Montserrat
Issue Date: Aug-2011
Publisher: Nature Publishing Group
Citation: European Journal of Human Genetics 19: 921-923 (2011)
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.
Description: 3 páginas.
Publisher version (URL): http://dx.doi.org/10.1038/ejhg.2011.41
URI: http://hdl.handle.net/10261/49343
ISSN: 1018-4813
DOI: 10.1038/ejhg.2011.41
E-ISSN: 1476-5438
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