Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.

ABSTRACT: Pulmonary arterial hypertension (PAH) is an infrequent disorder characterized by high blood pressure in the pulmonary arteries. It may lead to premature death or the requirement for lung and/or heart transplantation. Genetics plays an important and increasing role in the diagnosis of PAH. Here, we report seven additional patients with variants in SOX17 and a review of sixty previously described patients in the literature. Patients described in this study suffered with additional conditions including large septal defects, as described by other groups. Collectively, sixty-seven PAH patients have been reported so far with variants in SOX17, including missense and loss-of-function (LoF) variants. The majority of the loss-of-function variants found in SOX17 were detected in

SUBMITTER: Gallego-Zazo N 

PROVIDER: S-EPMC10606077 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature