A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.

ABSTRACT:

Purpose

Asthenozoospermia is an important cause of male infertility, and the most serious type is characterized by multiple morphological abnormalities of the sperm flagella (MMAF). However, the precise etiology of MMAF remains unknown. In the current study, we recruited a consanguineous Pakistani family with two infertile brothers suffering from primary infertility due to MMAF without obvious signs of PCD.

Methods

We performed whole-exome sequencing on DNAs of the patients, their parents, and a fertile brother and identified the homozygous missense variant (c.1490C > G (p.P497R) in NPHP4 as the candidate mutation for male infertility in this family.

Results

Sanger sequencing confirmed that this mutation recessively co-segregated with the MMAF in this family. In silic

SUBMITTER: Ali A 

PROVIDER: S-EPMC10789708 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature