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

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: ISSN: 0002-9297

Classification: Medizin, Gesundheit

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2024

Creator: 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

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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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

Time of origin

2024

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Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1

Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy

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The many faces of congenital anomalies of the kidney and urinary tract

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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

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Hochschulschrift

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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

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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

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

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Time of origin

Other Objects (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

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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