Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.

ABSTRACT:

Purpose

Primary ciliary dyskinesia (PCD), which commonly causes male infertility, is an inherited autosomal recessive disorder. This study aimed to investigate the clinical manifestations and screen mutations associated with the dynein axonemal assembly factor 2 (DNAAF2) gene in a Han Chinese family with PCD.

Methods

A three-generation family with PCD was recruited in this study. Eight family members underwent comprehensive medical examinations. Genomic DNA was extracted from the participants' peripheral blood, and targeted next-generation sequencing technology was used to perform the mutation screening. The DNAAF2 expression was analyzed by immunostaining and Western blot.

Results

The proband exhibited the typical clinical features of PCD. Spermatozoa from the proban

SUBMITTER: Sun M 

PROVIDER: S-EPMC7492306 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature