TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.

ABSTRACT:

Background

Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings.

Methods

Next-generation sequencing (NGS) was employed in both families to uncover the genetic cause. In addition, we performed functional analysis to investigate the consequences of the identified variants in vitro.

Results

NGS identified possible causative variants in both families in the protein kinase domain of the TGFBR1 gene. These variants occurred on the same

SUBMITTER: Alaamery M 

PROVIDER: S-EPMC10672196 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature