Article
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
Clinical genetics - 1 Jan 2021
Zhang Beibei, Khan Ihsan, Liu Chunyu, Ma Ao, Khan Asad, Zhang Yuanwei, Zhang Huan, Kakakhel Mian Basit Shah, Zhou Jianteng, Zhang Wen, Li Yang, Ali Asim, Jiang Xiaohua, Murtaza Ghulam, Khan Ranjha, Zubair Muhammad, Yuan Limin, Khan Mazhar, Wang Li, Zhang Feng, Wang Xiong, Ma Hui, Shi Qinghua
Abstract excerpt
Multiple morphological abnormalities of the flagella (MMAF) is a genetically heterogeneous disorder leading to male infertility. Recent studies have revealed that DNAH17 variants are associated with MMAF, yet there is no functional evidence in support of their pathnogenicity. Here, we recruited two consanguineous families of Pakistani and Chinese origins, respectively, diagnosed with MMAF. Whole-exome sequencing...
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