A novel splicing variant in DNAH8 causes asthenozoospermia.

ABSTRACT:

Purpose

To identify the genetic factors responsible for asthenozoospermia, which is a major cause of male infertility characterized by immotile and malformed spermatozoa.

Methods

Whole-exome sequencing was performed in two brothers from a family with asthenozoospermia to identify pathogenic variants. The functional effect of the identified variant was investigated in HEK293T cells using a minigene assay.

Results

We identified a novel homozygous splicing variant c.6311-2A>G in DNAH8 from two affected brothers belonging to the same consanguineous family. The splicing variant altered a consensus splice acceptor site of DNAH8 intron 44, which led to the deletion of exon 45 and resulted in a frameshift and a predicted truncated protein (p.G2104Efs*19). Although most sperma

SUBMITTER: Zhou Z 

PROVIDER: S-EPMC8266938 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature