Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function.
Sabrina MeisgenMalin HedlundAurelie AmbrosiLasse FolkersenVijole OttossonDavid ForsbergGudny Ella ThorlaciusLuca BiavatiLinn StrandbergJohannes MoforsDaniel RamskoldSabrina RuhrmannLauro MeneghelWilliam NybergAlexander EspinosaRobert Murray HamiltonAnders Franco-CerecedaAnders HamstenTomas OlssonLois GreenePer ErikssonKristina Gemzell-DanielssonStina SalomonssonVijay K KuchrooEric HerleniusIngrid KockumSven-Erik SonessonMarie Wahren-HerleniusPublished in: Annals of the rheumatic diseases (2022)
Our study identifies auxilin as the first genetic susceptibility factor in NLE modulating cardiac function, opening new avenues for the development of screening and therapeutic strategies in CHB.