Cognitive Psychology Commons^™

Enrichment Of Putatively Damaging Rare Variants In The Dyx2 Locus And The Reading-Related Genes Ccdc136 And Flnc, Andrew K. Adams, Shelley D. Smith, Dongnhu T. Truong, Erik G. Willcutt, Richard K. Olson, John C. Defries, Bruce F. Pennington, Jeffrey R. Gruen

Psychology: Faculty Scholarship

Eleven loci with prior evidence for association with reading and language phenotypes were sequenced in 96 unrelated subjects with significant impairment in reading performance drawn from the Colorado Learning Disability Research Center collection. Out of 148 total individual missense variants identified, the chromosome 7 genes CCDC136 and FLNC contained 19. In addition, a region corresponding to the well-known DYX2 locus for RD contained 74 missense variants. Both allele sets were filtered for a minor allele frequency ≤0.01 and high Polyphen-2 scores. To determine if observations of these alleles are occurring more frequently in our cases than expected by chance in …