5 research outputs found
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 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 50
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
Conception, synthèse et évaluation biologique d’inhibiteurs de LIM kinases
National audienc
LIM kinases as new therapeutic targets for the treatment of neurofibromatosis type 1
International audienc