Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Evin M PadhiTristan J HayeckZhang ChengSumantra ChatterjeeBrandon J MannionMarta Byrska-BishopMarjolaine WillemsLucile PinsonSylvia RedonCaroline BenechKevin UguenSéverine Audebert-BellangerCédric Le MarechalClaude FérecStephanie EfthymiouFatima RahmanShazia MaqboolReza MaroofianHenry HouldenRajeeva MusunuriGiuseppe NarzisiAvinash AbhyankarRiana D HunterJennifer AkiyamaLauren E FriesJeffrey K NgElvisa MehinovicNick StongAndrew S AllenDiane E DickelRaphael A BernierDavid U GorkinLen A PennacchioMichael C ZodyTychele N TurnerPublished in: Human genomics (2021)
In this study, we identify DNVs in the hs737 enhancer in individuals with autism. Through multiple approaches, we find hs737 targets the gene EBF3 that is genome-wide significant in NDDs. By assessment of noncoding variation and the genes they affect, we are beginning to understand their impact on gene regulatory networks in NDDs.