Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects

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Abstract: Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility. Further, PIH1D3 interacts and co-precipitates with cytoplasmic ODA/IDA assembly factors DNAAF2 and DNAAF4. This result has clinical and genetic counseling implications for genetically unsolved male case subjects with a classic PCD phenotype that lack additional phenotypes such as intellectual disability or retinitis pigmentosa

Standort
Deutsche Nationalbibliothek Frankfurt am Main
Umfang
Online-Ressource
Sprache
Englisch
Anmerkungen
ISSN: 0002-9297

Klassifikation
Medizin, Gesundheit

Ereignis
Veröffentlichung
(wo)
Freiburg
(wer)
Universität
(wann)
2024
Urheber
Matter, Anja
Bogunovic, Natalija
Paff, Tamara
Haarman, Eric G.
Pals, Gerard
Daniels, Johannes M.A
Sistermans, Erik A.
Loges, Niki T.
Micha, Dimitra
Daniels, Johannes M.A
Bogunovic, Natalija
Paff, Tamara
Matter, Anja
Loges, Niki T.
Sistermans, Erik A.
Micha, Dimitra
Pals, Gerard
Haarman, Eric G.
Aprea, Isabella
Wu, Kaman
Bakey, Zeineb
Loges, Niki T.
Sistermans, Erik A.
Haarman, Eric G.
Micha, Dimitra
Matter, Anja
Pals, Gerard
Paff, Tamara
Daniels, Johannes M.A
Bogunovic, Natalija
Sistermans, Erik A.
Daniels, Johannes M.A
Pals, Gerard
Bogunovic, Natalija
Micha, Dimitra
Paff, Tamara
Loges, Niki T.
Matter, Anja
Haarman, Eric G.
Bogunovic, Natalija
Pals, Gerard
Paff, Tamara
Daniels, Johannes M.A
Sistermans, Erik A.
Haarman, Eric G.
Micha, Dimitra
Loges, Niki T.
Matter, Anja
Loges, Niki T.
Sistermans, Erik A.
Daniels, Johannes M.A
Matter, Anja
Haarman, Eric G.
Paff, Tamara
Bogunovic, Natalija
Pals, Gerard
Micha, Dimitra
Dougherty, Gerard W.
Höben, Inga M.
Große-Onnebrink, Jörg
Paff, Tamara
Matter, Anja
Bogunovic, Natalija
Pals, Gerard
Daniels, Johannes M.A
Haarman, Eric G.
Micha, Dimitra
Sistermans, Erik A.
Loges, Niki T.
Olbrich, Heike
Werner, Claudius Alexander
Pals, Gerard
Sistermans, Erik A.
Matter, Anja
Bogunovic, Natalija
Loges, Niki T.
Micha, Dimitra
Daniels, Johannes M.A
Paff, Tamara
Haarman, Eric G.
Schmidts, Miriam
Omran, Heymut
Bogunovic, Natalija
Sistermans, Erik A.
Matter, Anja
Paff, Tamara
Haarman, Eric G.
Micha, Dimitra
Daniels, Johannes M.A
Pals, Gerard
Loges, Niki T.

DOI
10.1016/j.ajhg.2016.11.019
URN
urn:nbn:de:bsz:25-freidok-2443551
Rechteinformation
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Letzte Aktualisierung
25.03.2025, 13:44 MEZ

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