Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets

Authors: Tao Liu, Fazal Rahim, Meng-Lei Yang, Meftah Uddin, Jing-Wei Ye, Imtiaz Ali, Yousaf Raza, Abu Mansoor, Muhammad Shoaib, Mujahid Hussain, Ihsan Khan, Basit Shah, Asad Khan, Ahmad Nisar, Hui Ma, Bo Xu, Wasim Shah, Qing-Hua Shi

Source: Asian Journal of Andrology, Vol 27, Iss 2, Pp 245-253 (2025)

Subject Terms: c1a projection, central apparatus, male infertility, multiple morphological abnormalities of the flagella, spag17, Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/aja202496; https://doaj.org/toc/1008-682X; https://doaj.org/toc/1745-7262

Access URL: https://doaj.org/article/86e3fbee4c0e425f951d779a4402db71

Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Authors: Farah Ghieh, Anne-Laure Barbotin, Clara Leroy, François Marcelli, Nelly Swierkowsky-Blanchard, Valérie Serazin, Béatrice Mandon-Pepin, François Vialard

Source: Basic and Clinical Andrology, Vol 31, Iss 1, Pp 1-5 (2021)

Subject Terms: Male infertility, Whole-genome sequencing, Azoospermia, Macrozoospermia, Globozoospermia, Multiple morphological abnormalities of the flagella, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2051-4190

Access URL: https://doaj.org/article/0df351dc78a44fccbdc2ce477bc1f30f