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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10815-018-1374-3) contains supplementary material, which is available to authorized users.