Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

ABSTRACT: Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. One explanation may be that partial EDNRA signaling remains in MFDA and ARCND, as mice with reduced, but not absent, EDNRA signaling also lack a cardiovascular phenotype. Here we report an individual with craniofacial and cardiovascular malformations mimicking the Ednra ^-/- mouse phenotype, including a distinctive micrognathia with microstomia and a hypoplastic aortic arc

SUBMITTER: Pritchard AB 

PROVIDER: S-EPMC7202054 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature