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Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.

Human mutation - 1 Mar 2022

Gao Yang, Wu Huan, Xu Yuping, Shen Qunshan, Xu Chuan, Geng Hao, Lv Mingrong, Tan Qing, Li Kuokuo, Tang Dongdong, Song Bing, Zhou Ping, Wei Zhaolian, He Xiaojin, Cao Yunxia

Abstract excerpt

To investigate the genetic cause of male infertility characterized by severe asthenozoospermia, two unrelated infertile men with severe asthenozoospermia from nonconsanguineous Chinese families were enrolled, and whole exome sequencing were performed to identify the potential pathogenic mutations. Novel compound heterozygous mutations (NK062 III-1: c.290T>C, p.Leu97Pro; c.1664delT, p.Ile555Thrfs*11/NK038 III-1:...

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PMID: 34923715
DOI: 10.1002/humu.24322

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Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.PMID 34923715Read ↗

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