Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.

ABSTRACT:

Background

Multiple morphological abnormalities of the sperm flagella (MMAF) is a subtype of severe asthenoteratozoospermia with poorly understood genetic etiology. SPAG6 is a core axonemal component that plays a critical role in the formation of cilia and sperm flagella. Previous studies have reported that mutations in SPAG6 cause primary ciliary dyskinesia (PCD), but the association between SPAG6 gene variants and the MMAF phenotype has not yet been described.

Methods

We performed whole-exome sequencing (WES) in two unrelated Han Chinese men with MMAF. Sanger sequencing was used to validate the candidate variants. Routine semen analysis was carried out according to the WHO guidelines (5^th Edition). Sperm morphology was assessed using modified Papanicolaou staini

SUBMITTER: Xu C 

PROVIDER: S-EPMC8886842 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature