Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

Irene Madrigal, Mar Xunclà, Maria Isabel Tejada, Francisco Martínez, Isabel Fernández-Carvajal, Luis Perez-Jurado, Laia Rodriguez-Revenga, Montserrat Mil

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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.

Original languageEnglish
Pages (from-to)921-923
Number of pages3
JournalEuropean Journal of Human Genetics
Volume19
Issue number8
DOIs
Publication statusPublished - 1 Aug 2011

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Madrigal, I., Xunclà, M., Tejada, M. I., Martínez, F., Fernández-Carvajal, I., Perez-Jurado, L., ... Mil, M. (2011). Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes. European Journal of Human Genetics, 19(8), 921-923. https://doi.org/10.1038/ejhg.2011.41