Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.

doi:10.1016/j.ajhg.2020.06.004

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Article

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.

American journal of human genetics - 6 Aug 2020

Liu Chunyu, Miyata Haruhiko, Gao Yang, Sha Yanwei, Tang Shuyan, Xu Zoulan, Whitfield Marjorie, Patrat Catherine, Wu Huan, Dulioust Emmanuel, Tian Shixiong, Shimada Keisuke, Cong Jiangshan, Noda Taichi, Li Hang, Morohoshi Akane, Cazin Caroline, Kherraf Zine-Eddine, Arnoult Christophe, Jin Li, He Xiaojin, Ray Pierre F, Cao Yunxia, Touré Aminata, Zhang Feng, Ikawa Masahito

Abstract excerpt

Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by immotile spermatozoa with malformed and/or absent flagella in the ejaculate. Previous studies indicated genetic heterogeneity in MMAF. To further define genetic factors underlying MMAF, we performed whole-exome sequencing in a...

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Identifiers

PMID: 32619401
DOI: 10.1016/j.ajhg.2020.06.004
PMCID: PMC7413861

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