Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

doi:10.1016/j.ajhg.2009.01.011

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Article

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

American journal of human genetics - 1 Feb 2009

Castleman Victoria H, Romio Leila, Chodhari Rahul, Hirst Robert A, de Castro Sandra C P, Parker Keith A, Ybot-Gonzalez Patricia, Emes Richard D, Wilson Stephen W, Wallis Colin, Johnson Colin A, Herrera Rene J, Rutman Andrew, Dixon Mellisa, Shoemark Amelia, Bush Andrew, Hogg Claire, Gardiner R Mark, Reish Orit, Greene Nicholas D E, O'Callaghan Christopher, Purton Saul, Chung Eddie M K, Mitchison Hannah M

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural defects of the cilia and sperm axoneme that affect movement, leading to clinical consequences on respiratory-tract mucociliary clearance and lung function, fertility, and left-right body-axis determination. We performed...

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Identifiers

PMID: 19200523
DOI: 10.1016/j.ajhg.2009.01.011
PMCID: PMC2668031

Genes

RSPH9

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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.PMID 19200523Read ↗

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 ↗

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and 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 ↗

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

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

Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stabilitySemantic proximity Read ↗

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

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RSPH6A is required for sperm flagellum formation and male fertility in mice.Semantic proximity Read ↗

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.Semantic proximity Read ↗

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeSemantic proximity Read ↗

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