A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.

doi:10.1084/jem.20182365

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Article

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.

The Journal of experimental medicine - 3 Feb 2020

Zhang Beibei, Ma Hui, Khan Teka, Ma Ao, Li Tao, Zhang Huan, Gao Jianing, Zhou Jianteng, Li Yang, Yu Changping, Bao Jianqiang, Ali Asim, Murtaza Ghulam, Yin Hao, Gao Qian, Jiang Xiaohua, Zhang Feng, Liu Chunyu, Khan Ihsan, Zubair Muhammad, Hussain Hafiz Muhammad Jafar, Khan Ranjha, Yousaf Ayesha, Yuan Limin, Lu Yan, Xu Xiaoling, Wang Yun, Tao Qizhao, Hao Qiaomei, Fang Hui, Cheng Hongtao, Zhang Yuanwei, Shi Qinghua

Abstract excerpt

Asthenozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin parents, displaying idiopathic asthenozoospermia but no ciliary-related symptoms. Whole-exome sequencing identified a missense variant (c.G5408A, p.C1803Y) in DNAH17, a functionally uncharacterized gene, recessively cosegregating with...

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PMID: 31658987
DOI: 10.1084/jem.20182365
PMCID: PMC7041708

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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