Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects
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
Aprea, Isabella
Wu, Kaman
Bakey, Zeineb
Dougherty, Gerard W.
Höben, Inga M.
Große-Onnebrink, Jörg
Olbrich, Heike
Werner, Claudius Alexander
Schmidts, Miriam
Omran, Heymut
- 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
-
14.08.2025, 10:59 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Matter, Anja
- Bogunovic, Natalija
- Paff, Tamara
- Haarman, Eric G.
- Pals, Gerard
- Daniels, Johannes M.A
- Sistermans, Erik A.
- Loges, Niki T.
- Micha, Dimitra
- Aprea, Isabella
- Wu, Kaman
- Bakey, Zeineb
- Dougherty, Gerard W.
- Höben, Inga M.
- Große-Onnebrink, Jörg
- Olbrich, Heike
- Werner, Claudius Alexander
- Schmidts, Miriam
- Omran, Heymut
- Universität
Entstanden
- 2024
Ähnliche Objekte (12)
Ciliary dyneins and dynein related ciliopathies
Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
The many faces of congenital anomalies of the kidney and urinary tract
Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms
Primary Ciliary Dyskinesia
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Novel genetic defects in primary ciliary dyskinesia affecting function of dynein arms and central pair apparatus
Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Ciliary dyneins and dynein related ciliopathies
Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
The many faces of congenital anomalies of the kidney and urinary tract
Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms
Primary Ciliary Dyskinesia
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Novel genetic defects in primary ciliary dyskinesia affecting function of dynein arms and central pair apparatus
Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Ciliary dyneins and dynein related ciliopathies
Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
The many faces of congenital anomalies of the kidney and urinary tract
Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms
Primary Ciliary Dyskinesia
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Novel genetic defects in primary ciliary dyskinesia affecting function of dynein arms and central pair apparatus
Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes