Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia

• Published in: Reproductive biology and endocrinology Vol. 19; no. 1; pp. 129 - 12
• Main Authors: Tang, Dongdong, Lv, Mingrong, Gao, Yang, Cheng, Huiru, Li, Kuokuo, Xu, Chuan, Geng, Hao, Li, Guanjian, Shen, Qunshan, Wang, Chao, He, Xiaojin, Cao, Yunxia
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 24.08.2021; BioMed Central; BMC
• Subjects: Adult; Analysis; Antibodies; Azoospermia - genetics; Bioinformatics; Biopsy; Chromosomes; Cryptorchidism; DNA helicase; DNA Helicases - genetics; DNA Helicases - metabolism; DNA sequencing; Gene expression; Genetic diversity; Genetic factors; Genotype & phenotype; HFM1; Histochemistry; Homozygote; Humans; Immunofluorescence; Infertility; Infertility, Male; Karyotypes; Male; Male infertility; Meiosis; Metaphase; Microsurgery; microTESE; mRNA; Non-obstructive azoospermia; Nucleotide sequencing; Patients; Polymerase chain reaction; Proteins; Sex hormones; Sperm; Sperm Retrieval; Spermatogenesis; Spermatogenesis - genetics; Spermatozoa - pathology; Testes; Testis - metabolism; Testis - pathology; Testis - surgery; Western blotting; Y chromosomes; HFM1; microTESE; Non-obstructive azoospermia; Male infertility
• ISSN: 1477-7827; 1477-7827
• DOI: 10.1186/s12958-021-00815-z

Non-obstructive azoospermia (NOA) is the most severe form of male infertility; more than half of the NOA patients are idiopathic. Although many NOA risk genes have been detected, the genetic factors for NOA in majority of the patients are unknown. In addition, it is difficult to retrieve sperm from...