Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

ABSTRACT:

Purpose

In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share a common ancestor in 1728.

Methods

Trio genome sequencing was carried out in an index patient with critical congenital heart disease (CHD); family members had either exome or Sanger sequencing. To confirm enrichment, we performed a gene-based association test and meta-analysis in two independent validation cohorts: one with 2685 CHD cases versus 4370 . These controls were also ancestry-matched (same as FTAA controls), and the other with 326 cases with familial thoracic aortic aneurysms (FTAA) and dissections versus 570 ancestry-matched controls. Functional consequences of identified varian

SUBMITTER: van Walree ES 

PROVIDER: S-EPMC8804301 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature