A novel homozygous mutation in the meiotic gene <i>MSH4</i> leading to male infertility due to non-obstructive azoospermia.
Dongdong Tang, Chuan Xu, Hao Geng, Yang Gao, Huiru Cheng, Xiaoqing Ni, Xiaojin He, Yunxia Cao
Abstract
was identified as a candidate gene of male infertility causing NOA. A novel mutation of MSH4 (c.1552C>T:p.Q518X) is associated with the MA phenotype during spermatogenesis.
Topics & Concepts
AzoospermiaMale infertilitySanger sequencingAndrologyInfertilityMedicineMutationBiologyGynecologyGeneGeneticsPregnancyReproductive Biology and FertilitySperm and Testicular FunctionGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities