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Primary ciliary dyskinesia with CCDC39 variants displaying specific ciliary ultrastructure and movement concordant with the genotype: A case report
Affiliation:1. Kanazawa University Health Service Center, Kakuma-machi, Kanazawa, Ishikawa, 920-1192, Japan;2. Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie 514-8507, Japan;3. Department of Clinical Laboratory, Mie University Hospital, 2-174 Edobashi, Tsu, Mie 514-8507, Japan;4. Department of Otorhinolaryngology, Head & Neck Surgery, Graduate School of Medical Science Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan;5. Department of Respiratory Medicine, Kanazawa University Hospital, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8641, Japan;1. Department of Medical Oncology, Izumi City General Hospital, 4-5-1 Wake, Izumi, Osaka, 594-0073, Japan;2. Department of Medical Oncology, Kindai University Faculty of Medicine, 377-2, Ohno-higashi, Osaka-Sayama, Osaka, 589-8511, Japan;3. Department of Hematology, Izumi City General Hospital, 4-5-1, Wake, Izumi, Osaka, 594-0073, Japan;4. Department of General Thoracic Surgery, Osaka University Graduate School of Medicine, 2-2-L5 Yamadaoka, Suita, Osaka, 565- 0871, Japan;5. Department of Pathology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1, Sakamoto, Nagasaki, 852-8501, Japan;6. Department of Diagnostic Pathology, Tokyo Medical University Hachioji Medical Center, 1163 Tatemachi, Hachioji-shi, Tokyo, 193-0998, Japan;7. Department of Pathology, Keiyu Hospital, 3-7-3 Minatomirai Nishi-ku, Yokohama-shi, Kanagawa, 220-8521, Japan;8. Department of Pathology, School of Medicine, International University of Health and Welfare, 1-4-3 Mita, Minato-ku, Tokyo, 108-8329, Japan;1. Department of Advanced Medicine for Respiratory Failure, Graduate School of Medicine, Kyoto University, Kyoto, Japan;2. Department of Clinical Laboratory, Kyoto University Hospital, Kyoto, Japan;3. Department of Respiratory Care and Sleep Control Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan;4. Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan;5. Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan;1. Department of Respiratory Medicine, Okayama City Hospital, 3-20-1, Kitanagaseomote-cho, Kita-Ku, Okayama, 700-8557, Japan;2. Department of Cardiovascular Medicine, Okayama City Hospital, 3-20-1, Kitanagaseomote-cho, Kita-Ku, Okayama, 700-8557, Japan;3. Department of Radiology, Okayama City Hospital, 3-20-1, Kitanagaseomote-cho, Kita-Ku, Okayama, 700-8557, Japan;1. Department of Respiratory Medicine, The Jikei University Kashiwa Hospital, Chiba 277-8567, Japan;2. Division of Respiratory Diseases, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo 105-8461, Japan;3. Division of Neurology, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo 105-8461, Japan;4. Department of Neurology, The Jikei University Kashiwa Hospital, Chiba 277-8567, Japan;1. Department of Respiratory Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan;2. Department of Radiology, Nagoya University Graduate School of Medicine, Nagoya, Japan;3. Department of Advanced Medicine, Nagoya University Hospital, Nagoya, Japan;4. Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Abstract:Primary ciliary dyskinesia (PCD) is a genetic disease with chronic airway infection and inflammation caused by ciliary ultrastructural defects and impairment in ciliary function.We present an adult case of PCD with compound heterozygous nonsense variants in CCDC39. The ciliary ultrastructure findings using electron microscopy and ciliary movement using high-speed video analysis matched the genotype. This is the first case report of PCD with CCDC39 variants in Japan demonstrating specific ciliary ultrastructure and movement related to the genotype.
Keywords:Primary ciliary dyskinesia  Transmission electron microscopy  High-speed video analysis
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