Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

doi:10.1016/j.ajhg.2012.10.003

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Article

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

American journal of human genetics - 2 Nov 2012

Kott Esther, Duquesnoy Philippe, Copin Bruno, Legendre Marie, Dastot-Le Moal Florence, Montantin Guy, Jeanson Ludovic, Tamalet Aline, Papon Jean-François, Siffroi Jean-Pierre, Rives Nathalie, Mitchell Valérie, de Blic Jacques, Coste André, Clement Annick, Escalier Denise, Touré Aminata, Escudier Estelle, Amselem Serge

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a group of autosomal-recessive disorders resulting from cilia and sperm-flagella defects, which lead to respiratory infections and male infertility. Most implicated genes encode structural proteins that participate in the composition of axonemal components, such as dynein arms (DAs), that are essential for ciliary and flagellar movements; they explain the pathology in fewer...

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PMID: 23122589
DOI: 10.1016/j.ajhg.2012.10.003
PMCID: PMC3487148

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DNAAF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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