Identification of biallelic variations of CEP70 in patients with male infertility.

ABSTRACT:

Introduction

Male infertility is a severe health issue caused by complex and multifactorial pathological conditions. Genetic factors are a major cause of male infertility. CEP70, a centrosomal protein, has been reported to play an important role in male reproduction in mice. However, the role of CEP70 in human male infertility is limited.

Methods

Whole exome sequencing and Sanger sequencing were used to identify the genetic cause of the infertile patients. Papanicolaou staining, scanning electron microscopy and transmission electron microscopy were further conducted to explore morphological and ultrastructural defects in spermatozoa from the patient. Immunofluorescence staining was used to detect the pathogenicity of the identified variants and the particular expression of C

SUBMITTER: Ruan T 

PROVIDER: S-EPMC10035576 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature