Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurren...
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| Published in | American journal of human genetics Vol. 97; no. 4; pp. 546 - 554 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.10.2015
Cell Press Elsevier |
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| Online Access | Get full text |
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| Abstract | Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurrent respiratory infections. Numerous genetic defects, most of which can be detected by transmission electron microscopy (TEM), are so far known to cause different abnormalities of the ciliary axoneme. However, some defects are not regularly discernable by TEM because the ciliary architecture of the axoneme remains preserved. This applies in particular to isolated defects of the nexin links, also known as the nexin-dynein regulatory complex (N-DRC), connecting the peripheral outer microtubular doublets. Immunofluorescence analyses of respiratory cells from PCD-affected individuals detected a N-DRC defect. Genome-wide exome sequence analyses identified recessive loss-of-function mutations in GAS8 encoding DRC4 in three independent PCD-affected families. |
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| AbstractList | Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurrent respiratory infections. Numerous genetic defects, most of which can be detected by transmission electron microscopy (TEM), are so far known to cause different abnormalities of the ciliary axoneme. However, some defects are not regularly discernable by TEM because the ciliary architecture of the axoneme remains preserved. This applies in particular to isolated defects of the nexin links, also known as the nexin-dynein regulatory complex (N-DRC), connecting the peripheral outer microtubular doublets. Immunofluorescence analyses of respiratory cells from PCD-affected individuals detected a N-DRC defect. Genome-wide exome sequence analyses identified recessive loss-of-function mutations in
GAS8
encoding DRC4 in three independent PCD-affected families. Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurrent respiratory infections. Numerous genetic defects, most of which can be detected by transmission electron microscopy (TEM), are so far known to cause different abnormalities of the ciliary axoneme. However, some defects are not regularly discernable by TEM because the ciliary architecture of the axoneme remains preserved. This applies in particular to isolated defects of the nexin links, also known as the nexin-dynein regulatory complex (N-DRC), connecting the peripheral outer microtubular doublets. Immunofluorescence analyses of respiratory cells from PCD-affected individuals detected a N-DRC defect. Genome-wide exome sequence analyses identified recessive loss-of-function mutations in GAS8 encoding DRC4 in three independent PCD-affected families. |
| Author | Omran, Heymut Nielsen, Kim G. Olbrich, Heike Rommelmann, Frank Menchen, Tabea Dougherty, Gerard W. Edelbusch, Christine Altmüller, Janine Werner, Claudius Cremers, Carolin Loges, Niki T. Philipsen, Maria Wallmeier, Julia Thiele, Holger Pennekamp, Petra Marthin, June K. Schwartz, Oliver |
| AuthorAffiliation | 5 Pulmonary Specialist Practice, 40217 Duesseldorf, Germany 3 Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany 2 Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark 4 Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany 1 Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany |
| AuthorAffiliation_xml | – name: 5 Pulmonary Specialist Practice, 40217 Duesseldorf, Germany – name: 2 Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark – name: 1 Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – name: 4 Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany – name: 3 Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany |
| Author_xml | – sequence: 1 givenname: Heike surname: Olbrich fullname: Olbrich, Heike email: heike.olbrich@ukmuenster.de organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 2 givenname: Carolin surname: Cremers fullname: Cremers, Carolin organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 3 givenname: Niki T. surname: Loges fullname: Loges, Niki T. organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 4 givenname: Claudius surname: Werner fullname: Werner, Claudius organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 5 givenname: Kim G. surname: Nielsen fullname: Nielsen, Kim G. organization: Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark – sequence: 6 givenname: June K. surname: Marthin fullname: Marthin, June K. organization: Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark – sequence: 7 givenname: Maria surname: Philipsen fullname: Philipsen, Maria organization: Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark – sequence: 8 givenname: Julia surname: Wallmeier fullname: Wallmeier, Julia organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 9 givenname: Petra surname: Pennekamp fullname: Pennekamp, Petra organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 10 givenname: Tabea surname: Menchen fullname: Menchen, Tabea organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 11 givenname: Christine surname: Edelbusch fullname: Edelbusch, Christine organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 12 givenname: Gerard W. surname: Dougherty fullname: Dougherty, Gerard W. organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 13 givenname: Oliver surname: Schwartz fullname: Schwartz, Oliver organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany – sequence: 14 givenname: Holger surname: Thiele fullname: Thiele, Holger organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 15 givenname: Janine surname: Altmüller fullname: Altmüller, Janine organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 16 givenname: Frank surname: Rommelmann fullname: Rommelmann, Frank organization: Pulmonary Specialist Practice, 40217 Duesseldorf, Germany – sequence: 17 givenname: Heymut surname: Omran fullname: Omran, Heymut email: heymut.omran@ukmuenster.de organization: Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26387594$$D View this record in MEDLINE/PubMed |
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| Copyright | 2015 The American Society of Human Genetics Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Oct 1, 2015 2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics |
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| Title | Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex |
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