Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.

ABSTRACT:

Background

Early-onset isolated systemic hypertension is a rare condition of unknown genetic origin. Renovascular, renal parenchymal diseases or aortic coarctation are the most common causes of secondary systemic hypertension in younger children and neonates. We investigated the genetic bases of early-onset isolated systemic hypertension.

Methods

Whole-exome sequencing (WES) was followed by variant filtering and Sanger sequencing for validation and familial segregation of selected variants in a large consanguineous family. mRNA expression was performed to evaluate the impact of the predicted pathogenic variant on gene expression. WES or Sanger sequencing was performed in additional unrelated affected individuals.

Results

In one consanguineous family with four children

SUBMITTER: Capri Y 

PROVIDER: S-EPMC10579472 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature