CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations
Abstract Background No formal diagnostic criteria for progressive pseudo‐rheumatoid dysplasia (PPD) are available because of insufficient clinical data, which results in that PPD is often misdiagnosed with other diseases. Whole exome sequencing (WES) and Sanger sequencing were employed to reveal the...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-07-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1261 |
| _version_ | 1828304888997609472 |
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| author | Yingjie Wang Ke Xiao Yuemei Yang Zhihong Wu Jin Jin Guixing Qiu Xisheng Weng Xiuli Zhao |
| author_facet | Yingjie Wang Ke Xiao Yuemei Yang Zhihong Wu Jin Jin Guixing Qiu Xisheng Weng Xiuli Zhao |
| author_sort | Yingjie Wang |
| collection | DOAJ |
| description | Abstract Background No formal diagnostic criteria for progressive pseudo‐rheumatoid dysplasia (PPD) are available because of insufficient clinical data, which results in that PPD is often misdiagnosed with other diseases. Whole exome sequencing (WES) and Sanger sequencing were employed to reveal the novel mutations on CCN6 of five patients with PPD from China in order to increase the clinical data of PPD. Methods Four suspected PPD pedigrees containing five patients in total were collected from 1998 to 2018 in our medical center. The phenotypes of each suspected PPD case were recorded in detail, and peripheral blood samples were collected for subsequent sequencing. Genomic DNA was extracted from peripheral blood samples, and Agilent liquid phase chip capture system was utilized for efficient enrichment of whole exome region DNA. After acquiring raw sequenced reads of whole exome region, bioinformatics analysis was completed in conjunction with reference or genome sequence (GRCh37/hg19). Sanger sequencing was performed to identify the results of WES. Results In total, four novel PPD‐related mutation sites in CCN6 gene were identified including (CCN6):c.643 + 2T>C, (CCN6):c.1064_1065dupGT(p.Gln356ValfsTer33), (CCN6):c.1064G > A), and exon4:c.670dupA:p.W223fs. Conclusion Our findings increase the clinical data of PPD including the CCN6 mutation spectrum, the clinical symptoms and signs. Moreover, the study highlights the utility of WES in reaching definitive diagnoses for PPD. |
| first_indexed | 2024-04-13T14:19:17Z |
| format | Article |
| id | doaj.art-02cefaafbbd74ad2ab80e7f76c87aba3 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-13T14:19:17Z |
| publishDate | 2020-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-02cefaafbbd74ad2ab80e7f76c87aba32022-12-22T02:43:32ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-07-0187n/an/a10.1002/mgg3.1261CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutationsYingjie Wang0Ke Xiao1Yuemei Yang2Zhihong Wu3Jin Jin4Guixing Qiu5Xisheng Weng6Xiuli Zhao7Department of Orthopedic Surgery Peking Union Medical College HospitalPeking Union Medical College & Chinese Academy of Medical Science Beijing ChinaDepartment of Orthopedic Surgery West China HospitalSichuan University Chengdu ChinaCentral Laboratory Peking Union Medical College HospitalPeking Union Medical College & Chinese Academy of Medical Science Beijing ChinaCentral Laboratory Peking Union Medical College HospitalPeking Union Medical College & Chinese Academy of Medical Science Beijing ChinaDepartment of Orthopedic Surgery Peking Union Medical College HospitalPeking Union Medical College & Chinese Academy of Medical Science Beijing ChinaDepartment of Orthopedic Surgery Peking Union Medical College HospitalPeking Union Medical College & Chinese Academy of Medical Science Beijing ChinaDepartment of Orthopedic Surgery Peking Union Medical College HospitalPeking Union Medical College & Chinese Academy of Medical Science Beijing ChinaDepartment of Medical Genetics School of Basic Medicine Peking Union Medical College Beijing ChinaAbstract Background No formal diagnostic criteria for progressive pseudo‐rheumatoid dysplasia (PPD) are available because of insufficient clinical data, which results in that PPD is often misdiagnosed with other diseases. Whole exome sequencing (WES) and Sanger sequencing were employed to reveal the novel mutations on CCN6 of five patients with PPD from China in order to increase the clinical data of PPD. Methods Four suspected PPD pedigrees containing five patients in total were collected from 1998 to 2018 in our medical center. The phenotypes of each suspected PPD case were recorded in detail, and peripheral blood samples were collected for subsequent sequencing. Genomic DNA was extracted from peripheral blood samples, and Agilent liquid phase chip capture system was utilized for efficient enrichment of whole exome region DNA. After acquiring raw sequenced reads of whole exome region, bioinformatics analysis was completed in conjunction with reference or genome sequence (GRCh37/hg19). Sanger sequencing was performed to identify the results of WES. Results In total, four novel PPD‐related mutation sites in CCN6 gene were identified including (CCN6):c.643 + 2T>C, (CCN6):c.1064_1065dupGT(p.Gln356ValfsTer33), (CCN6):c.1064G > A), and exon4:c.670dupA:p.W223fs. Conclusion Our findings increase the clinical data of PPD including the CCN6 mutation spectrum, the clinical symptoms and signs. Moreover, the study highlights the utility of WES in reaching definitive diagnoses for PPD.https://doi.org/10.1002/mgg3.1261CCN6novel mutationsprogressive pseudo‐rheumatoid dysplasiawhole exome sequencing |
| spellingShingle | Yingjie Wang Ke Xiao Yuemei Yang Zhihong Wu Jin Jin Guixing Qiu Xisheng Weng Xiuli Zhao CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations Molecular Genetics & Genomic Medicine CCN6 novel mutations progressive pseudo‐rheumatoid dysplasia whole exome sequencing |
| title | CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations |
| title_full | CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations |
| title_fullStr | CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations |
| title_full_unstemmed | CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations |
| title_short | CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations |
| title_sort | ccn6 mutation detection in chinese patients with progressive pseudo rheumatoid dysplasia and identification of four novel mutations |
| topic | CCN6 novel mutations progressive pseudo‐rheumatoid dysplasia whole exome sequencing |
| url | https://doi.org/10.1002/mgg3.1261 |
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