• PMID: 30628500
• Gene Name: GALNTL5
• Condition: Asthenoozoospermia
• Association: Associated
• Sex: Male
• Infertility type: Male infertility

Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia

Hagiuda J, Takasaki N, Oya M, Ishikawa H, Narimatsu H.

Asthenozoospermia is commonly observed in infertile men. However, very few causative gene mutations have been identified because an efficient detection method has not been established. We previously identified a patient with asthenozoospermia carrying a heterozygous point deletion in GALNTL5 by detecting an abnormal reduction in the abundance of GALNTL5 and other marker proteins. To identify other mutations in GALNTL5, we screened sperm samples from 208 infertile men mainly diagnosed with asthenozoospermia using the same method, and conducted next-generation sequencing. Consequently, another case of GALNTL5 mutation was detected only in sperm at a low frequency but not in the somatic blood cells of a patient diagnosed with asthenozoospermia. In this patient, sperm motility improved and the mutation disappeared at 2 years after the first observation. In this man, carrying a heterozygotic deficiency of GALNTL5, the swim-up method was useful to concentrate the spermatozoa without mutation. Intracytoplasmic sperm injection of the selected motile spermatozoa into oocytes of the patient's partner resulted in successful conception, and a female child was safely delivered. These results suggest the feasibility of our approach for the screening and treatment of asthenozoospermia associated with GALNTL5 mutation. FAU - Hagiuda, Jun AU - Hagiuda J AD - a Research Center for Medical Glycoscience , National Institute of Advanced Industrial Science and Technology (AIST) , Tsukuba , Japan. AD - b Department of Urology , Ichikawa General Hospital, Tokyo Dental College , Ichikawa , Japan. AD - c Department of Urology , School of Medicine, Keio University , Tokyo , Japan. FAU - Takasaki, Nobuyoshi AU - Takasaki N AD - a Research Center for Medical Glycoscience , National Institute of Advanced Industrial Science and Technology (AIST) , Tsukuba , Japan. AD - d Bell Research Center Obstetrics and Gynecology , Academic Research and Industrial-Academia Collaboration, Nagoya University Graduate School of Medicine , Nagoya , Japan. FAU - Oya, Mototsugu AU - Oya M AD - c Department of Urology , School of Medicine, Keio University , Tokyo , Japan. FAU - Ishikawa, Hiromichi AU - Ishikawa H AD - b Department of Urology , Ichikawa General Hospital, Tokyo Dental College , Ichikawa , Japan.