Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 sub...

Full description

Saved in:
Bibliographic Details
Published in:Behavior genetics 2013-03, Vol.43 (2), p.132-140
Main Authors: Huc-Chabrolle, M., Charon, C., Guilmatre, A., Vourc’h, P., Tripi, G., Barthez, M. A., Sizaret, E., Thepault, R. A., Le Gallic, S., Hager, J., Toutain, A., Raynaud, M., Andres, C., Campion, D., Laumonnier, F., Bonnet-Brilhault, F.
Format: Article
Language:English
Subjects:
5' Untranslated Regions
Behavioral Science and Psychology
Brain
Candidates
Child
Child & adolescent psychiatry
Children
Chromosomes, Human, X - genetics
Clinical Psychology
Cognitive ability
Dyslexia
Dyslexia - genetics
Dyslexia/dysorthography
Dyx 9 loci
Female
FMR1
Fragile X Mental Retardation Protein - genetics
France
Genes
Genes, X-Linked
Genetic Loci
Genetic Predisposition to Disease - genetics
Genetics
Genome-Wide Association Study
Genomes
Genotype
Health Psychology
Human genetics
Human genetics Linkage study
Humans
Learning
Learning disabilities
Life Sciences
Lod Score
Male
Multiplex families
Mutation
Neurodevelopmental disorders
Original Research
Pedigree
Phenotypes
Polymorphism, Single Nucleotide
Psychology
Public Health
Reading
Single-nucleotide polymorphism
Susceptibility
Trinucleotide repeats
X chromosome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences ( CXORF1 , CXORF51 , SLITRK2 , FMR1 , FMR2 , ASFMR1 , FMR1NB ), all having a role during brain development. We further looked for 5′UTR trinucleotide repeats in FMR1 and FMR2 genes. No mutation or polymorphism co-segregating with dyslexia was found. This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus. We reduced the previously described interval from 6.8 (DXS1227–DXS8091) to 4 Mb also disclosing a higher LOD score.
ISSN:0001-8244
1573-3297
DOI:10.1007/s10519-012-9575-5