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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. In humans, defects in structural components, docking complexes, or cytoplasmic assembly factors can cause primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease and defects in laterality. By using combined high resolution copy-number variant and mutation analysis, we identified ARMC4 mutations in twelve PCD individuals whose cells showed reduced numbers of ODAs and severely impaired ciliary beating. Transient suppression in zebrafish and analysis of an ENU mouse mutant confirmed in both model organisms that ARMC4 is critical for left-right patterning. We demonstrate that ARMC4 is an axonemal protein that is necessary for proper targeting and anchoring of ODAs.

Pubmed ID: 23849778


  • Hjeij R
  • Lindstrand A
  • Francis R
  • Zariwala MA
  • Liu X
  • Li Y
  • Damerla R
  • Dougherty GW
  • Abouhamed M
  • Olbrich H
  • Loges NT
  • Pennekamp P
  • Davis EE
  • Carvalho CM
  • Pehlivan D
  • Werner C
  • Raidt J
  • Köhler G
  • Häffner K
  • Reyes-Mugica M
  • Lupski JR
  • Leigh MW
  • Rosenfeld M
  • Morgan LC
  • Knowles MR
  • Lo CW
  • Katsanis N
  • Omran H


American journal of human genetics

Publication Data

August 8, 2013

Associated Grants

  • Agency: NINDS NIH HHS, Id: 5R0/NS058529
  • Agency: NHGRI NIH HHS, Id: 5U54HG006542
  • Agency: NIDDK NIH HHS, Id: DK072301
  • Agency: NIDDK NIH HHS, Id: R01 DK072301
  • Agency: NHLBI NIH HHS, Id: R01 HL071798
  • Agency: NHLBI NIH HHS, Id: R01 HL071798
  • Agency: NINDS NIH HHS, Id: R01 NS058529
  • Agency: NHLBI NIH HHS, Id: U01-HL098180
  • Agency: NHGRI NIH HHS, Id: U54 HG003273
  • Agency: NHGRI NIH HHS, Id: U54 HG006542
  • Agency: NHLBI NIH HHS, Id: U54 HL096458-10
  • Agency: NCRR NIH HHS, Id: U54 RR019480

Mesh Terms

  • Amino Acid Sequence
  • Animals
  • Armadillo Domain Proteins
  • Axoneme
  • Body Patterning
  • Cilia
  • DNA Copy Number Variations
  • DNA Mutational Analysis
  • Dyneins
  • Gene Expression Regulation
  • Humans
  • Kartagener Syndrome
  • Mice
  • Microtubule-Associated Proteins
  • Molecular Sequence Data
  • Mutation
  • Respiratory System
  • Zebrafish