Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.

ABSTRACT:

Purpose

This study aimed to identify the genetic causes of male infertility and primary ciliary dyskinesia (PCD)/PCD-like phenotypes in three unrelated Han Chinese families.

Methods

We conducted whole-exome sequencing of three patients with male infertility and PCD/PCD-like phenotypes from three unrelated Chinese families. Ultrastructural and immunostaining analyses of patient spermatozoa and respiratory cilia and in vitro analyses were performed to analyze the effects of SPEF2 variants. Intracytoplasmic sperm injection (ICSI) was administered to three affected patients.

Results

We identified four novel SPEF2 variants, including one novel homozygous splicing site variant [NC_000005.10(NM_024867.4): c.4447 + 1G > A] of the SPEF2 gene in family 1, novel compound heteroz

SUBMITTER: Lu W 

PROVIDER: S-EPMC11224184 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature