CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.

ABSTRACT:

Trial design

Primary ciliary dyskinesia (PCD) is a genetical disease that inherited in an autosomal-recessive way. Its clinical manifestations (such as male infertility) are mainly caused by defects of motion-related cilia that encoded by mutated genes. Although some mutation has been verified, a number of mutations of PCD remain elusive. The main purpose of this study is to identify mutant genes in a Chinese family with PCD, and to verify the safety and effectiveness of intracytoplasmic sperm injection (ICSI) of infertility caused by PCD.

Methods

Imaging examination was used to exclude pulmonary inflammation and visceral translocation. Semen analysis was used to assess the quality of the proband's sperm. Transmission electron microscopy (TEM) was conducted to assess the ult

SUBMITTER: Liu L 

PROVIDER: S-EPMC8702141 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature