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

to connected objects

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
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

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

Last update: 25.03.2025, 1:44 PM CET

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

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

Other Objects (12)

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Hochschulschrift

Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia

Hochschulschrift

Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1

Hochschulschrift

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Hochschulschrift

Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]

Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium

Ciliary Neurotrophic Factor

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

Hochschulschrift

ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways

Hochschulschrift

Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia

Hydrodynamics of Ciliary Systems

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Hochschulschrift

Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia

Hochschulschrift

Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1

Hochschulschrift

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Hochschulschrift

Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]

Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium

Ciliary Neurotrophic Factor

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

Hochschulschrift

ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways

Hochschulschrift

Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia

Hydrodynamics of Ciliary Systems

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Hochschulschrift

Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia

Hochschulschrift

Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1

Hochschulschrift

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Hochschulschrift

Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]

Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium

Ciliary Neurotrophic Factor

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

Hochschulschrift

ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways

Hochschulschrift

Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia

Hydrodynamics of Ciliary Systems

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

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

Object Details

Classification and Topics

Contributors, Places and Time

Further information

Data provider

Associated

Time of origin

Other Objects (12)

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia

Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]

Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium

Ciliary Neurotrophic Factor

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways

Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia

Hydrodynamics of Ciliary Systems

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia

Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]

Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium

Ciliary Neurotrophic Factor

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways

Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia

Hydrodynamics of Ciliary Systems

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia

Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]

Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium

Ciliary Neurotrophic Factor

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways

Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia

Hydrodynamics of Ciliary Systems

Related objects

Reset password