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

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 decreased in the patient compared with his father. Moreover, no embryos were available for transfer after ICSI.

CONCLUSIONS

These results further support the important role of AURKC in male infertility and guide the practitioner in optimal decision making for patients with macrozoospermia.