Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

ABSTRACT:

Purpose

Macrozoospermia is a rare sperm morphologic abnormality associated with male infertility and is characterized by a high percentage of spermatozoa with large irregular heads. The aim of this study was to identify the genetic cause of an infertile male with macrozoospermia from a consanguineous family.

Methods

Whole-exome sequencing (WES) was performed using peripheral blood genomic DNA from the patient and his parents.

Results

WES analysis of the patient with macrozoospermia from a consanguineous family allowed the identification of a novel homozygous missense variant in the AURKC gene (c.269G>A). Bioinformatics analysis also suggested this variant a pathogenic mutation. Quantitative real-time PCR analysis showed that the mRNA level of AURKC is significantly de

SUBMITTER: Hua J 

PROVIDER: S-EPMC6439091 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature