• PMID: 30594972
• Gene Name: AURKC
• Condition: Macrozoospermia, Male infertiltiy
• Association: Associated
• Mutation: c.269G>A
• Population size: 1
• Population details: 1 petient with macrozooapermia
• Age: 27 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Macrozoospermia, Male infertiltiy

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

Hua J, Wan YY.

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. FAU - Hua, Juan AU - Hua J AUID- ORCID: 0000-0002-9546-6203 AD - Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Anhui Medical University, Hefei, 230032, China.