Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

ABSTRACT:

Purpose

Hardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12 variants cause disease is unknown. We aim to expand the phenotypic and molecular landscape of HS and elucidate the mechanism by which MED12 variants cause disease.

Methods

We clinically assembled and molecularly characterized a cohort of 11 previously unreported individuals with HS. Additionally, we studied the effect of MED12 deficiency on ciliary biology, hedgehog, and yes

SUBMITTER: Strong A 

PROVIDER: S-EPMC11456378 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature