Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a clinically heterogeneous group of autosomal or, less frequently, X-chromosomal recessive inheritance syndrome of motile cilia dysfunction characterized by neonatal respiratory distress, oto-sino-pulmonary disease, infertility and situs inversus. Recently, type 43 PCD (CILD43, OMIM#618699) was established by autosomal-dominant loss-of-function mutations identified in Forkhead box J1 (FOXJ1). However, the functional validation of FOXJ1 mutations in humans and mice has not been fully performed. Here we studied a three-generation family with heterotaxy and proband with complex congenital heart disease (CHD).

Methods

We performed whole-exome sequencing to investigate the causative variant of this family and generated

SUBMITTER: Li L 

PROVIDER: S-EPMC10485651 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature