A Novel Compound Heterozygous Mutation in TDRD9 Causes Oligozoospermia.

ABSTRACT: Oligozoospermia is an important cause of male infertility for which treatment options are limited. Spermatogenesis is complex, and the causes of oligozoospermia remain largely unknown. Because genetic mutations are important factors of oligozoospermia pathogenesis, our study aimed to explore the genetic causes of oligozoospermia. Whole- exome sequencing (WES) was performed on one proband from a Chinese family who was diagnosed with oligozoospermia. The pathogenic mutations were confirmed by Sanger sequencing, and a minigene assay was used to determine the effect of the identified splicing mutation. We identified a novel compound heterozygous mutation in the TDRD9 gene, comprising a splicing mutation (c.1115 + 3A > G) and a frameshift mutation (c.958delC), in the proband; neither of these m

SUBMITTER: Wang W 

PROVIDER: S-EPMC11527903 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature