Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.

ABSTRACT:

Purpose

To identify the genetic cause of patients with primary ciliary dyskinesia (PCD) and male infertility from two unrelated Han Chinese families.

Methods

We conducted whole-exome sequencing of three individuals with PCD and male infertility from two unrelated Chinese families, and performed a targeted look-up for DNAAF6 variants in our previously reported cohort of 442 individuals (219 with isolated oligoasthenospermia and 223 fertile controls). Ultrastructural and immunostaining analyses of patients' spermatozoa were performed. The pathogenicity of the variants was validated using patient's spermatozoa and HEK293T cells. Intracytoplasmic sperm injection (ICSI) treatment was conducted in two patients.

Results

We identified one novel hemizygous frameshift variant (

SUBMITTER: Wang Y 

PROVIDER: S-EPMC7183028 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature