Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. The variants were NM_003611.3: c.[2789_2793delTAAAA...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2024/1595717 |
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| author | Yifei Xu Yuki Tsurinaga Tsubasa Matsumoto Ryuji Muta Taichi Yano Hiroshi Sakaida Sawako Masuda Koki Ueda Guofei Feng Shimpei Gotoh Satoru Ogawa Makoto Ikejiri Kaname Nakatani Mizuho Nagao Masaki Tanabe Kazuhiko Takeuchi |
| author_facet | Yifei Xu Yuki Tsurinaga Tsubasa Matsumoto Ryuji Muta Taichi Yano Hiroshi Sakaida Sawako Masuda Koki Ueda Guofei Feng Shimpei Gotoh Satoru Ogawa Makoto Ikejiri Kaname Nakatani Mizuho Nagao Masaki Tanabe Kazuhiko Takeuchi |
| author_sort | Yifei Xu |
| collection | DOAJ |
| description | Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. The variants were NM_003611.3: c.[2789_2793delTAAAA] (p.[Ile930LysfsTer8]) in Case 1 and c.[2632_2635delGAAG] (p.[Glu878LysfsTer9]) in Case 2. Both cases had characteristic recurrent respiratory infections. Neither case had symptoms of oral-facial-digital syndrome type I. We identified a variant (c.2632_2635delGAAG) that has not been previously reported in any case of OFD1-PCD. |
| format | Article |
| id | doaj-art-3b6aec926727480589126864b134efcb |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-3b6aec926727480589126864b134efcb2025-01-02T22:33:02ZengWileyCase Reports in Genetics2090-65522024-01-01202410.1155/2024/1595717Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1Yifei Xu0Yuki Tsurinaga1Tsubasa Matsumoto2Ryuji Muta3Taichi Yano4Hiroshi Sakaida5Sawako Masuda6Koki Ueda7Guofei Feng8Shimpei Gotoh9Satoru Ogawa10Makoto Ikejiri11Kaname Nakatani12Mizuho Nagao13Masaki Tanabe14Kazuhiko Takeuchi15Department of Otorhinolaryngology-Head and Neck SurgeryDepartment of PediatricsDepartment of Pediatric Infection and ImmunologyDepartment of Allergy and Respiratory MedicineFaculty of MedicineDepartment of Otorhinolaryngology-Head and Neck SurgeryDepartment of OtorhinolaryngologyDepartment of Otorhinolaryngology-Head and Neck SurgeryDepartment of Otorhinolaryngology-Head and Neck SurgeryCenter for iPS Cell Research and ApplicationElectron Microscopy Research CenterDepartment of Clinical LaboratoryDepartment of MedicineInstitute for Clinical ResearchDepartment of Clinical LaboratoryDepartment of Otorhinolaryngology-Head and Neck SurgeryPrimary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. The variants were NM_003611.3: c.[2789_2793delTAAAA] (p.[Ile930LysfsTer8]) in Case 1 and c.[2632_2635delGAAG] (p.[Glu878LysfsTer9]) in Case 2. Both cases had characteristic recurrent respiratory infections. Neither case had symptoms of oral-facial-digital syndrome type I. We identified a variant (c.2632_2635delGAAG) that has not been previously reported in any case of OFD1-PCD.http://dx.doi.org/10.1155/2024/1595717 |
| spellingShingle | Yifei Xu Yuki Tsurinaga Tsubasa Matsumoto Ryuji Muta Taichi Yano Hiroshi Sakaida Sawako Masuda Koki Ueda Guofei Feng Shimpei Gotoh Satoru Ogawa Makoto Ikejiri Kaname Nakatani Mizuho Nagao Masaki Tanabe Kazuhiko Takeuchi Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 Case Reports in Genetics |
| title | Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 |
| title_full | Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 |
| title_fullStr | Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 |
| title_full_unstemmed | Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 |
| title_short | Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 |
| title_sort | two pediatric cases of primary ciliary dyskinesia caused by loss of function variants in oral facial digital syndrome gene ofd1 |
| url | http://dx.doi.org/10.1155/2024/1595717 |
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