Dyslexia is a frequent neurodevelopmentallearning disorder. To date, nine susceptibility loci havebeen identified, one of them being DYX9, located in Xq27.We performed the first French SNP linkage study followedby candidate gene investigation in dyslexia by studying 12multiplex families (58 subjects) with at least two childrenaffected, according to categorical restrictive criteria forphenotype definition. Significant results emerged onXq27.3 within DYX9. The maximum multipoint LODscore reached 3,884 between rs12558359 and rs454992.Within this region, seven candidate genes were investigatedfor mutations in exonic sequences (CXORF1,CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB),all having a role during brain development. We furtherlooked for 50UTR trinucleotide repeats in FMR1 and FMR2genes. No mutation or polymorphism co-segregating withdyslexia was found. This finding in French families withDyslexia showed significant linkage on Xq27.3 enclosingFRAXA, and consequently confirmed the DYX9 region asa robust susceptibility locus. We reduced the previouslydescribed interval from 6.8 (DXS1227–DXS8091) to 4 Mbalso disclosing a higher LOD score.
|Numero di pagine||9|
|Stato di pubblicazione||Published - 2013|
All Science Journal Classification (ASJC) codes
- Ecology, Evolution, Behavior and Systematics