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Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure.

Molecular human reproduction - 30 Jun 2023

Wang Yulin, Chen Guoyong, Tang Zhenzhen, Mei Xiaoyan, Lin Chunli, Kang Jingyi, Lian Jianqing, Lu Jun, Liu Yun, Lan Fenghua, Huang Wujian, Zhang Duo

Abstract excerpt

Fertilization failure is a significant manifestation of unexplained male infertility. Previous work has suggested a genetic origin. In this study, we report on a man with unexplained infertility from a large consanguineous marriage family. Whole-exome sequencing and Sanger sequencing identified a homozygous frameshift variation of the IQ motif containing N (IQCN; GenBank: NM_001145304.1; c.1061_1062delAT;...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37184908
DOI: 10.1093/molehr/gaad018

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