Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.

ABSTRACT:

Purpose

To identify new mutations in DNAH17 that cause male infertility and analyze intracytoplasmic sperm injection (ICSI) outcomes in patients with DNAH17 mutations.

Methods

A total of five cases of new DNAH17 mutations exhibiting the multiple morphological abnormalities of the sperm flagella (MMAF) phenotype were identified through semen analysis and genetic testing. They were recruited at our reproductive medicine center from September 2018 to July 2022. Information on DNAH17 genetic mutations and ICSI outcomes was systematically explored following a literature review.

Results

Three novel compound mutations in DNAH17 were identified in patients with male infertility caused by MMAF. This study and previous publications included 21 patients with DNAH17 mutations. DN

SUBMITTER: Song B 

PROVIDER: S-EPMC10504183 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature