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

doi:10.1016/j.ajhg.2016.06.022

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Article

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

American journal of human genetics - 4 Aug 2016

El Khouri Elma, Thomas Lucie, Jeanson Ludovic, Bequignon Emilie, Vallette Benoit, Duquesnoy Philippe, Montantin Guy, Copin Bruno, Dastot-Le Moal Florence, Blanchon Sylvain, Papon Jean François, Lorès Patrick, Yuan Li, Collot Nathalie, Tissier Sylvie, Faucon Catherine, Gacon Gérard, Patrat Catherine, Wolf Jean Philippe, Dulioust Emmanuel, Crestani Bruno, Escudier Estelle, Coste André, Legendre Marie, Touré Aminata, Amselem Serge

Abstract excerpt

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as a result of sperm flagellar dysfunction. The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase...

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Identifiers

PMID: 27486783
DOI: 10.1016/j.ajhg.2016.06.022
PMCID: PMC4974111

Genes

DNAJB13

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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