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Media Gallery

Axial CT image showing dextrocardia and situs inversus in a patient with Kartagener syndrome. Image courtesy of Wikimedia Commons.
Axial CT image showing situs inversus (liver and inferior vena cava on the left, spleen and aorta on the right) in a patient with Kartagener syndrome. Image courtesy of Wikimedia Commons.
Normal cilia (A) compared with cilia in Kartagener syndrome with missing dynein arms (B). Image courtesy of Wikimedia Commons.

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Table. Mutations in the Genes that Cause Human Primary Ciliary Dyskinesia^[14]

Table. Mutations in the Genes that Cause Human Primary Ciliary Dyskinesia ^[14]

Human Gene	Human Chromosomal Location	Chlamydomonas Ortholog	Ciliary Ultrastructure in Subjects with Biallelic Mutations	Presence of Laterality Defects	Percentage of Individual with Biallelic Mutations	MIM No.
DNAH5	5p15.2	DHC ?	ODA defect	Yes	15-21% of all PCD, 27-38% of PCD with ODA defects	608644
DNAI1	9p21-p13	IC78	ODA defect	Yes	2-9% of all PCD, 4-13% of PCD with ODA defects	244400
DNAI2	17q25	IC69	ODA defect	Yes	2% of all PCD, 4% of PCD with ODA defects	612444
DNAL1	14q24.3	LC1	ODA defect	Yes	na	614017
CCDC114	19q13.32	DC2	ODA defect	Yes	6% of PCD with ODA defects	615038
TXNDC3 (NME8)	7p14-p13	LC5	Partial ODA defect (66% cilia defective)	Yes	na	610852
DNAAF1 (LRRC50)	16q24.1	ODA7	ODA + IDA defect	Yes	17% of PCD with ODA + IDA defects	613193
DNAAF2 (KTU)	14q21.3	PF13	ODA + IDA defect	Yes	12% of PCD with ODA + IDA defects	612517, 612518
DNAAF3 (C19ORF51)	19q13.42	PF22	ODA + IDA defect	Yes	na	606763
CCDC103	17q21.31	PR46b	ODA + IDA defect	Yes	na	614679
HEATR2	7p22.3	Chlre4 gene model 525994 Phytozyme v8.0 gene ID Cre09.g39500.t1	ODA + IDA defect	Yes	na	614864
LRRC6	8q24	MOT47	ODA + IDA defect	Yes	11% of PCD with ODA + IDA defects	614930
CCDC39	3q26.33	FAP59	IDA defect + axonemal disorganization	Yes	36-65% of PCD with IDA defects + Axonemal disorganization	613798
CCDC40	17q25.3	FAP172	IDA defect + axonemal disorganization	Yes	24-54% of PCD with IDA defects + Axonemal disorganization	613808
RSPH4A	6q22.1	RSP4, RSP6	Mostly normal, CA defects in small proportion of cilia	No	na	612649
RSPH9	6p21.1	RSP9	Mostly normal, CA defects in small proportion of cilia	No	na	612648
HYDIN	16q22.2	hydin	Normal, very occasionally CA defects	No	na	610812
DNAH11	7p21	DHC ß	Normal	Yes	6% of all PCD, 22% of PCD with normal ultrastructure	603339
RPGR	Xp21.1	na	Mixed	No	PCD cosegregates with X-linked retinitis pigmentosa	300170
OFD1	Xq22	OFD1	nd	No	PCD cosegregates with X-linked mental retardation	312610
CCDC164 (C2ORF39)	2p23.3	DRC1	Nexin (N-DRC) link missing; axonemal disorganization in small proportion of cilia	No	na	312610
CA = central apparatus; IDA = inner dynein arm; MIM = Mendelian Inheritance in Man; na = not available; N-DRC = nexin–dynein regulatory complex; ODA = outer dynein arm; PCD = primary ciliary dyskinesia.

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Author

Elena B Willis, MD Resident Physician, Department of Otorhinolaryngology, Albert Einstein College of Medicine, Montefiore Medical Center

Elena B Willis, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Medical Student Association/Foundation, Wilderness Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Margo Rose Tanghetti, DO Chief Resident, Department of Otolaryngology, Oklahoma State University College of Osteopathic Medicine

Margo Rose Tanghetti, DO is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Osteopathic Colleges of Ophthalmology and Otolaryngology-Head and Neck Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Daniel R Ouellette, MD, FCCP Associate Professor of Medicine, Wayne State University School of Medicine; Medical Director, Pulmonary Medicine General Practice Unit (F2), Senior Staff and Attending Physician, Division of Pulmonary and Critical Care Medicine, Henry Ford Hospital

Daniel R Ouellette, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society, Society of Critical Care Medicine

Disclosure: Received research grant from: Sanofi Pharmaceutical.

Chief Editor

John J Oppenheimer, MD Clinical Professor, Department of Medicine, Rutgers New Jersey Medical School; Director of Clinical Research, Pulmonary and Allergy Associates, PA

John J Oppenheimer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, New Jersey Allergy, Asthma and Immunology Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Amgen; GSK; Aquestive; Aimmune<br/>Clinical Adjudication/Data Safety Monitoring Board for AZ, GSK, Abbvie, Sanofi; Executive Editor for Annals of Allergy, Asthma & Immunology; Editor for Medscape; Reviewer for UpToDate; Honoraria from American Board of Allergy and Immunology.

Additional Contributors

Ryland P Byrd, Jr, MD Professor of Medicine, Division of Pulmonary Disease and Critical Care Medicine, James H Quillen College of Medicine, East Tennessee State University

Ryland P Byrd, Jr, MD is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

John P Bent, III, MD Professor, Director of Pediatric Otolaryngology, Departments of Otolaryngology-Head and Neck Surgery and Pediatrics, Albert Einstein School of Medicine; Director, Airway Clinic, Cochlear Implant Program, Children's Hospital at Montefiore

John P Bent, III, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, Society of University Otolaryngologists-Head and Neck Surgeons, Triological Society

Disclosure: Nothing to disclose.

Arvind K Badhey, MD Clinical Assistant Professor , Attending Surgeon, Head and Neck Surgical Oncology and Microvascular Reconstructive Surgery, Department of Otolaryngology, UMass Memorial Health, University of Massuchusetts Medical School

Arvind K Badhey, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Head and Neck Society

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Matthew Olearczyk, MD and Esther X Vivas, MD, to the development and writing of this article.

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