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Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in gene with spermatogenesis failure in male idiopathic infertility in Northeast China
- Source :
- Journal of International Medical Research, Vol 47 (2019)
- Publication Year :
- 2019
- Publisher :
- SAGE Publishing, 2019.
-
Abstract
- Male infertility is a complex multifactorial disease affecting approximately 10% of couples who want to have children. Some cases of infertility can be explained by genetic factors. Septins are members of the GTPase superfamily, which are involved in diverse biological processes including morphogenesis, compartmentalization, cytokinesis, and apoptosis. The septin 12 gene, SEPT12 , is expressed exclusively in post-meiotic male germ cells and is considered as a critical gene for spermatogenesis. In this study, we evaluated 200 patients with non-obstructive azoospermia and detected mutations of 25 spermatogenesis-associated genes by targeted exome sequencing. We report a missense SEPT12 variant, c.673C>A/p.Gln225Lys, in an infertile man with non-obstructive azoospermia. The variation was located inside the GTPase domain and had a SIFT score of 0.02 (
- Subjects :
- Medicine (General)
R5-920
Subjects
Details
- Language :
- English
- ISSN :
- 03000605 and 14732300
- Volume :
- 47
- Database :
- Directory of Open Access Journals
- Journal :
- Journal of International Medical Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.7bdbccc9a7264ecdb561d3abfad95084
- Document Type :
- article
- Full Text :
- https://doi.org/10.1177/0300060518811770