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Article

A homozygous splicing mutation in CCDC39 caused multiple morphological abnormalities of the flagella in an infertile man with primary ciliary dyskinesia.

Asian journal of andrology - 1 Sept 2026

Tao Wen, Li Ming, Uddin Islam, Yan Di, Jiang Xiao-Hua, Bai Shun

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a severe sperm defect, leading to male infertility. PCD affects both respiratory function and sperm motility, as motile cilia and sperm flagella rely on axonemal architecture. Multiple morphological abnormalities of the sperm flagella (MMAF) is a distinct form of asthenoteratozoospermia, characterized by a heterogeneous spectrum of flagellar defects. In recent years,...

Read the complete abstract on PubMed

Topics

Humans
Male
Infertility, Male
Sperm Tail
Mutation
Homozygote
Sperm Motility

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Kartagener Syndrome

Cytoskeletal Proteins

Adult

Ciliary Motility Disorders

Phenotype

Sperm Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42210652
DOI: 10.4103/aja2025117
PMCID: PMC13623334

Genes

CCDC39

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A homozygous splicing mutation in CCDC39 caused multiple morphological abnormalities of the flagella in an infertile man with primary ciliary dyskinesia.PMID 42210652Read ↗

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener SyndromeSemantic proximity Read ↗

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

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.Semantic proximity Read ↗

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.Semantic proximity Read ↗

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesiaSemantic proximity Read ↗

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.Semantic proximity Read ↗

Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.Semantic proximity Read ↗

Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.Semantic proximity Read ↗

Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertilitySemantic proximity Read ↗

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.Semantic proximity Read ↗

DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.Semantic proximity Read ↗

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

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