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Article

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.

Journal of human genetics - 1 Nov 2020

Sha Yanwei, Wei Xiaoli, Ding Lu, Ji Zhiyong, Mei Libin, Huang Xianjing, Su Zhiying, Wang Wenrong, Zhang Xuequan, Lin Shaobin

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent respiratory infections, nasosinusitis, tympanitis, and/or male infertility, all of which can severely impair the patient's quality of life. Multiple morphological abnormalities of the sperm flagella (MMAF) is one type of severe teratozoospermia and results from a variety of flagellar defects. In this study, we conducted...

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PMID: 32555313
DOI: 10.1038/s10038-020-0790-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.PMID 32555313Read ↗

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertilitySemantic proximity Read ↗

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

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary UltrastructureSemantic proximity Read ↗

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Semantic proximity Read ↗

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani familiesSemantic proximity Read ↗

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.Semantic proximity Read ↗

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.Semantic proximity Read ↗

Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).Semantic proximity Read ↗

A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.Semantic proximity Read ↗

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

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

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

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