Article
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
Journal of medical genetics - 1 Jul 2022
Cong Jiangshan, Wang Xiong, Amiri-Yekta Amir, Wang Lingbo, Kherraf Zine-Eddine, Liu Chunyu, Cazin Caroline, Tang Shuyan, Hosseini Seyedeh Hanieh, Tian Shixiong, Daneshipour Abbas, Wang Jiaxiong, Zhou Yiling, Zeng Yuyan, Yang Shenmin, He Xiaojin, Li Jinsong, Cao Yunxia, Jin Li, Ray Pierre F, Zhang Feng
Abstract excerpt
BACKGROUND: Oligoasthenoteratozoospermia is a typical feature of sperm malformations leading to male infertility. Only a few genes have been clearly identified as pathogenic genes of oligoasthenoteratozoospermia. METHODS AND RESULTS: Here, we identified a homozygous frameshift variant (c.731dup, p.Asn244Lysfs*3) in CCDC34, which is preferentially expressed in the human testis, using whole-exome sequencing in a...
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