Patient with CATSPER3 mutations-related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI).

ABSTRACT:

Purpose

This study is intended to investigate the candidate pathogenic gene in a patient with primary infertility but without the defect in routine semen parameters from a consanguineous family and explore the potential impacts of mutations on assisted reproductive technology outcome.

Methods

Whole-exome sequencing (WES) was carried out. A variant in his family found by WES was verified by Sanger sequencing. Intracytoplasmic sperm injection (ICSI) was applied to obtain a successful outcome.

Results

A Cation Channel of Sperm 3(CATSPER3) homozygous variant (NM_ 178019.3:exon5:c.707T>A, p.L236*) was identified for the first time. The anti-CD46 immunofluorescence analysis revealed the failure of sperm acrosome reaction (AR) caused by the mutation. ICSI treatment was succe

SUBMITTER: Wang J 

PROVIDER: S-EPMC8077087 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature