TY - JOUR
T1 - Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes
AU - Madrigal, Irene
AU - Xunclà, Mar
AU - Tejada, Maria Isabel
AU - Martínez, Francisco
AU - Fernández-Carvajal, Isabel
AU - Pérez-Jurado, Luís Alberto
AU - Rodriguez-Revenga, Laia
AU - Mil, Montserrat
PY - 2011/8
Y1 - 2011/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=79960644425&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2011.41
DO - 10.1038/ejhg.2011.41
M3 - Article
C2 - 21427756
AN - SCOPUS:79960644425
SN - 1018-4813
VL - 19
SP - 921
EP - 923
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 8
ER -