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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.

American journal of human genetics - 4 Feb 2021

Liu Chunyu, Tu Chaofeng, Wang Lingbo, Wu Huan, Houston Brendan J, Mastrorosa Francesco K, Zhang Wen, Shen Ying, Wang Jiaxiong, Tian Shixiong, Meng Lanlan, Cong Jiangshan, Yang Shenmin, Jiang Yiwen, Tang Shuyan, Zeng Yuyan, Lv Mingrong, Lin Ge, Li Jinsong, Saiyin Hexige, He Xiaojin, Jin Li, Touré Aminata, Ray Pierre F, Veltman Joris A, Shi Qinghua, O'Bryan Moira K, Cao Yunxia, Tan Yue-Qiu, Zhang Feng

Abstract excerpt

Asthenoteratozoospermia characterized by multiple morphological abnormalities of the flagella (MMAF) has been identified as a sub-type of male infertility. Recent progress has identified several MMAF-associated genes with an autosomal recessive inheritance in human affected individuals, but the etiology in approximately 40% of affected individuals remains unknown. Here, we conducted whole-exome sequencing (WES)...

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Asthenozoospermia
Genes, X-Linked
Hemizygote
Infertility, Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sperm Injections, Intracytoplasmic

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Identifiers

PMID: 33472045
DOI: 10.1016/j.ajhg.2021.01.002
PMCID: PMC7895902

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.PMID 33472045Read ↗

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermiaSemantic proximity Read ↗

Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermiaSemantic proximity Read ↗

Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.Semantic proximity Read ↗

CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype.Semantic proximity Read ↗

Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.Semantic proximity Read ↗

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella developmentSemantic proximity Read ↗

Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagellaSemantic proximity Read ↗

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Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.Semantic proximity Read ↗

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and miceSemantic proximity Read ↗

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformationsSemantic proximity Read ↗

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