Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.
Aline L PetrinLigiane A Machado-PaulaAustin B HinkleLuke HoveyWaheed AwotoyeMichael S ChimentiBenjamin W DarbroLucilene A Ribeiro-BicudoShareef M DabdoubTabitha K PeterPatrick J BrehenyJeff C MurrayEric Van OtterlooShankar Rengasamy VenugopalanLina M Moreno-UribePublished in: medRxiv : the preprint server for health sciences (2024)
SIX1, PDGFRA, and KDR/VEGFR2 are strongly associated to OAVS phenotypes. SIX1 has been previously associated with OAVS ear malformations and is co-expressed with EYA1 during ear development. Efforts to strengthen the genotype-phenotype co-relation underlying the OAVS are key to discover etiology, family counseling and prevention.