Ontology highlight
ABSTRACT:
SUBMITTER: He X
PROVIDER: S-EPMC7477015 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
He Xiaojin X Liu Chunyu C Yang Xiaoyu X Lv Mingrong M Ni Xiaoqing X Li Qiang Q Cheng Huiru H Liu Wangjie W Tian Shixiong S Wu Huan H Gao Yang Y Yang Chenyu C Tan Qing Q Cong Jiangshan J Tang Dongdong D Zhang Jingjing J Song Bing B Zhong Yading Y Li Hang H Zhi Weiwei W Mao Xiaohong X Fu Feifei F Ge Lei L Shen Qunshan Q Zhang Manyu M Saiyin Hexige H Jin Li L Xu Yuping Y Zhou Ping P Wei Zhaolian Z Zhang Feng F Cao Yunxia Y
American journal of human genetics 20200812 3
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenoteratozoospermia. Although recent studies have revealed several MMAF-associated genes and demonstrated MMAF to be a genetically heterogeneous disease, at least one-third of the cases are still not well understood for their etiology. Here, we identified bi-allelic loss-of-function variants in CFAP58 by using whole-exome sequencing in five (5.6%) unrelated individuals from a cohort of 90 MMAF-affected Chin ...[more]