A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family.

Autor: Fang Q; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China., Ran L; Center for Genetics, National Research Institute for Family Planning, Beijing, China.; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Bi X; Center for Genetics, National Research Institute for Family Planning, Beijing, China.; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Di J; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China., Liu Y; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China., Xu F; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China. xufengqin1968@126.com., Wang B; Center for Genetics, National Research Institute for Family Planning, Beijing, China. wbbahu@163.com.; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. wbbahu@163.com.; NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP), Beijing, China. wbbahu@163.com.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2024 Dec; Vol. 69 (12), pp. 675-677. Date of Electronic Publication: 2024 Aug 19.
DOI: 10.1038/s10038-024-01288-9
Abstrakt: Male infertility is a widespread population health concern, causing various degrees of adverse fertility outcomes. We determined the genetic cause of an infertile male from a consanguineous family, expanding the mutant spectrum of male infertility. A non-obstructive azoospermia (NOA) patient was recruited, and histological type of human testicular tissue of the patient categorized as maturation arrest. We identified a novel loss-of-function variant of syntaxin 2 (STX2) (c.142C>T:p.Gln48*) by performing Whole-exome sequencing (WES) on the NOA patient from a consanguineous Chinese family. Sanger sequencing confirmed the p.Gln48* variant was maternally and paternally inherited. The variant was predicted to be deleterious and resulted in aberrant changes to structure and function of STX2 by In silico analysis. In summary, we reported for the first time that a nonsense variant occurred in the exon region of STX2 in an infertile male presenting with NOA, which was beneficial for diagnosis and therapies of NOA.
Competing Interests: Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: We adhered to the Code of Ethics of the World Medical Association (Declaration of Helsinki, revised in 2013), and the ethical committee of the National Research Institute for Family Planning approved this study. All family members participating in this study signed informed consent.
(© 2024. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
Databáze: MEDLINE
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