biostudies-literaturePettigrew KAWolfson FoundationMedical Research CouncilEsther Yewpick Lee MillenniumRoyal SocietyWellcome Trust24https://www.ebi.ac.uk/biostudies/studies/S-EPMC4908686biostudies-literatureUnknown8<h4>Background</h4>Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required.<h4>Methods</h4>We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including chJournal of neurodevelopmental disordersFurther evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.PMC4908686UF100463097831/Z/11/ZRG110387G1000569WT082032MAG1000569/1090532/Z/09/ZG0800523Chan MTMHayiou-Thomas MENudel RStein JFrinton EParacchini SThompson PSnowling MJPettigrew KAHulme CNewbury DFTalcott JBMonaco APfalseFurther evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.<h4>Background</h4>Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required.<h4>Methods</h4>We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including ch2016-01-01T00:00:00Z20162025-06-01T04:18:02.183Z2025-06-01T04:18:02.183ZS-EPMC49086862730779410.1186/s11689-016-9157-6