Novel variants of FSIP2 and SPEF2 cause varying degrees of spermatozoa damage in MMAF patients and favorable ART outcomes.

ABSTRACT:

Purpose

This study identified novel variants of the FSIP2 and SPEF2 genes in multiple morphological abnormalities of the sperm flagella (MMAF) patients and to investigate the potential effect of variations on male infertility and assisted reproductive outcomes.

Methods

Whole-exome sequencing was performed in 106 Chinese MMAF patients. The discovered variants were evaluated in silico and confirmed by Sanger sequencing. A mini-gene assay and immunofluorescence staining were used to determine the effects on mRNA and protein. Assisted reproductive technology (ART) based on intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF) was used for MMAF patients carrying novel variants.

Results

Biallelic variants in FSIP2 or SPEF2 involving nineteen novel variati

SUBMITTER: Dai CL 

PROVIDER: S-EPMC11950586 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature