On March 29, 2019, the team of Professor Cao Yunxia from the First Affiliated Hospital of Anhui Medical University, cooperating with Professor Zhang Feng from the Obstetrics and Gynecology Hospital of Fudan University and Professor Pierre F. Ray of the University of Grenoble, France, published the paper titled “Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice” on The American Journal of Human Genetics, which is the international authoritative journal of genetics. This study found the new disease-causing gene TTC21A, which causes human asthenoteratospermia, and for the first time described the relationship between TPR protein and human male infertility. The publication of this achievement is also the third time that the research results of the reproductive medicine team of the First Affiliated Hospital of Anhui Medical University were published on The American Journal of Human Genetics.
The study was conducted with 65 patients with multiple morphological abnormalities of the sperm flagella (MMAF) from The First Affiliated Hospital of Anhui Medical University and Suzhou Hospital Affiliated to Nanjing Medical University. The peripheral blood whole-exome sequencing WES technology was adopted in the study and bi-allelic mutations of the new MMAF causative gene TTC21A were identified in one patient from consanguineous family and two sporadic patients.
In recent years, Professor Cao Yunxia and Professor Zhang Feng have conducted in-depth cooperation on the genetic research of deformed sperm disease, and have achieved fruitful results: successive studies which revealed a number of pathogenic genes leading to MMAF, including CFAP43, CFAP44, CFAP69, FSIP2 and WDR66, etc., and were published on The Journal of Medical Genetics, Journal of Genetics and Genomics, and Reproductive BioMedicine Online. They contributed greatly to the development of male infertility treatment. The results of the collaborative study this time revealed that the bi-allelic gene of TTC21A can induce Asthenoteratospermia (sperm motility and sperm abnormality), which leads to male infertility. The new research findings will provide a theoretical basis for accurate diagnosis, genetic counseling and clinical treatment of male infertility patients, and bring hope to the infertile families.