Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2
Abstract Background The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overv...
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| Format: | Article |
| Language: | English |
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BMC
2023-12-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04185-w |
| _version_ | 1827590357434499072 |
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| author | Lili Dong Lei Zhang Xiao Li Shiyue Mei Yuelin Shen Libing Fu Shunying Zhao Xiaolei Tang Yu Tang |
| author_facet | Lili Dong Lei Zhang Xiao Li Shiyue Mei Yuelin Shen Libing Fu Shunying Zhao Xiaolei Tang Yu Tang |
| author_sort | Lili Dong |
| collection | DOAJ |
| description | Abstract Background The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date. Methods A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants. Results The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant. Conclusion The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children. |
| first_indexed | 2024-03-09T01:14:47Z |
| format | Article |
| id | doaj.art-8b55810d8f7948d9a018a5c0b7ff25b5 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-09T01:14:47Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-8b55810d8f7948d9a018a5c0b7ff25b52023-12-10T12:32:02ZengBMCBMC Pediatrics1471-24312023-12-012311910.1186/s12887-023-04185-wClinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2Lili Dong0Lei Zhang1Xiao Li2Shiyue Mei3Yuelin Shen4Libing Fu5Shunying Zhao6Xiaolei Tang7Yu Tang8Department of Respiratory Medicine, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Respiratory Medicine, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Respiratory Medicine, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalHenan Provincial Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Respiratory Medicine, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Pathology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Respiratory Medicine, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Respiratory Medicine, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Respiratory Medicine, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalAbstract Background The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date. Methods A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants. Results The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant. Conclusion The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children.https://doi.org/10.1186/s12887-023-04185-wPrimary ciliary dyskinesiaDynein axonemal assembly factorGenotypeVariantChinese |
| spellingShingle | Lili Dong Lei Zhang Xiao Li Shiyue Mei Yuelin Shen Libing Fu Shunying Zhao Xiaolei Tang Yu Tang Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2 BMC Pediatrics Primary ciliary dyskinesia Dynein axonemal assembly factor Genotype Variant Chinese |
| title | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2 |
| title_full | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2 |
| title_fullStr | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2 |
| title_full_unstemmed | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2 |
| title_short | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2 |
| title_sort | clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of dnaaf2 |
| topic | Primary ciliary dyskinesia Dynein axonemal assembly factor Genotype Variant Chinese |
| url | https://doi.org/10.1186/s12887-023-04185-w |
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