Association between genes regulating neural pathways for quantitative traits of speech and language disorders

Penelope Benchek, Robert P Igo Jr., Heather Voss-Hoynes, Yvonne E Wren, Gabrielle Miller, Barbara Truitt, Wen Zhang, Michael Osterman, Lisa Freebairn, Jessica Tag, Gerry Taylor, E. Ricky Chan, Panos Roussos, Barbara Lewis, Catherine Stein*, Sudha Iyengar*

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review


Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 18 significant loci (combined p<10-8) that we pursued bioinformatically. We prioritized 5 novel gene regions with likely functional repercussions on neural pathways, including those which colocalized with differentially methylated regions in our sample. Polygenic risk scores for receptive language, expressive vocabulary, phonological awareness, phonological memory, spelling, and reading decoding associated with increasing clinical severity. In summary, neural genetic influence on SSD is primarily multigenic and acts on genomic regulatory elements, similar to other neurodevelopmental disorders.
Original languageEnglish
JournalNPJ Genomic Medicine
Publication statusAccepted/In press - 22 Jun 2021


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