• PMID: 26452337
• Gene Name: PLK4
• Condition: Sertoli cell-only syndrome (SCOS), Non obstructive azoospermia, Male infertility
• Association: Associated
• Population size: 81
• Population details: 81 patients with azoospermia and Sertoli cell-only syndrome (SCOS)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Sertoli cell-only syndrome (SCOS), Non obstructive azoospermia, Male infertility

A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome

Miyamoto T, Bando Y, Koh E, Tsujimura A, Miyagawa Y, Iijima M, Namiki M, Shiina M, Ogata K, Matsumoto N, Sengoku K.

About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli cell-only syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia. CI - © 2015 American Society of Andrology and European Academy of Andrology. FAU - Miyamoto, T AU - Miyamoto T AD - Departments of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa, Japan. FAU - Bando, Y AU - Bando Y AD - Functional Anatomy and Neuroscience, Asahikawa Medical University, Asahikawa, Japan. FAU - Koh, E AU - Koh E AD - Department of Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. FAU - Tsujimura, A AU - Tsujimura A AD - Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan. FAU - Miyagawa, Y AU - Miyagawa Y AD - Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan. FAU - Iijima, M AU - Iijima M AD - Department of Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. FAU - Namiki, M AU - Namiki M AD - Department of Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. FAU - Shiina, M AU - Shiina M AD - Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan. FAU - Ogata, K AU - Ogata K AD - Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan. FAU - Matsumoto, N AU - Matsumoto N AD - Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.