Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Jodie OuahedJudith R KelsenWaldo A SpessottKameron KoosheshMaria L SanmillanNoor DawanyKathleen E SullivanKathryn E HamiltonVoytek SlowikSergey NejentsevJoão Farela NevesHelena FloresWendy K ChungAshley WilsonKwame Anyane-YeboaKaren WouPreti JainMichael FieldSophia TollefsonMaiah H DentDalin LiTakeo NaitoDermot P B McGovernAndrew C KwongFaith TaliaferroJose Ordovas-MontanesBruce H HorwitzDaniel KotlarzChristoph KleinJonathan EvansJill DorseyNeil WarnerAbdul ElkadriAleixo M MuiseJeffrey GoldsmithBenjamin ThompsonKarin R EngelhardtAndrew J CantSophie HambletonAndrew BarclayAgnes Toth-PetroczyDana VuzmanNikkola CarmichaelCorneliu BodeaChristopher A CassaMarcella DevotoRichard L MaasEdward M BehrensClaudio G GiraudoScott B SnapperPublished in: Journal of Crohn's & colitis (2022)
Overall, we describe a novel genetic syndrome and identify a critical role for STXBP3 in VEOIBD, sensorineural hearing loss and immune dysregulation.