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Article

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

American journal of human genetics - 2 Jul 2015

Jeanson Ludovic, Copin Bruno, Papon Jean-François, Dastot-Le Moal Florence, Duquesnoy Philippe, Montantin Guy, Cadranel Jacques, Corvol Harriet, Coste André, Désir Julie, Souayah Anissa, Kott Esther, Collot Nathalie, Tissier Sylvie, Louis Bruno, Tamalet Aline, de Blic Jacques, Clement Annick, Escudier Estelle, Amselem Serge, Legendre Marie

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive condition resulting from structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The great majority of mutations identified so far involve genes whose defects result in dynein-arm anomalies. By contrast, PCD due to CC/RS defects (those in the central complex [CC] and radial spokes [RSs]), which might be difficult to...

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Identifiers

PMID: 26073779
DOI: 10.1016/j.ajhg.2015.05.004
PMCID: PMC4571005

Genes

RSPH3
RSPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.PMID 26073779Read ↗

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.Semantic proximity Read ↗

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.Semantic proximity Read ↗

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.Semantic proximity Read ↗

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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.Semantic proximity Read ↗

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertilitySemantic proximity Read ↗

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.Semantic proximity Read ↗

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.Semantic proximity Read ↗

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