Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment.

ABSTRACT: Reading disability (RD) and language impairment (LI) are common learning disabilities that make acquisition and utilization of reading and verbal language skills, respectively, difficult for affected individuals. Both disorders have a substantial genetic component with complex inheritance. Despite decades of study, reading and language, like many other complex traits, consistently evade identification of causative and functional variants. We previously identified a putative functional risk variant, named BV677278 for its GenBank accession number, for RD in DCDC2. This variant consists of an intronic microdeletion and a highly polymorphic short tandem repeat (STR) within its breakpoints. We have also shown this STR to bind to an unknown nuclear protein with high specificity. Here, we replic

SUBMITTER: Powers NR 

PROVIDER: S-EPMC3710765 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature