Article
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Human genetics - 1 Nov 2022
Wu Huan, Zhang Xin, Hua Rong, Li Yuqian, Cheng Li, Li Kuokuo, Liu Yiyuan, Gao Yang, Shen Qunshan, Wang Guanxiong, Lv Mingrong, Xu Yuping, He Xiaojin, Cao Yunxia, Liu Mingxi
Abstract excerpt
Non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) represent the most serious forms of human infertility caused by gametogenic failure. Although whole-exome sequencing (WES) has uncovered multiple monogenic causes of human infertility, our knowledge of the genetic basis of human gametogenesis defects remains at a rudimentary stage. Coiled-coil-domain-containing protein 155 (CCDC155)...
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