Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis o...
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Frontiers Media S.A.
2021-08-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.705973/full |
| _version_ | 1818881348687888384 |
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| author | Jie-Yuan Jin Jie-Yuan Jin Lei Zeng Bing-Bing Guo Yi Dong Ju-Yu Tang Rong Xiang Rong Xiang Rong Xiang Rong Xiang |
| author_facet | Jie-Yuan Jin Jie-Yuan Jin Lei Zeng Bing-Bing Guo Yi Dong Ju-Yu Tang Rong Xiang Rong Xiang Rong Xiang Rong Xiang |
| author_sort | Jie-Yuan Jin |
| collection | DOAJ |
| description | Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis of the medial part of the eyebrows, and deaf-mutism. WS3 is extremely rare, with a unique phenotype (upper limb abnormality). Heterozygous mutations of PAX3 are commonly associated with WS1, whereas partial or total deletions of PAX3 are often observed in WS3 cases. Deletions, together with insertions, translocations, inversions, mobile elements, tandem duplications, and complexes, constitute structural variants (SVs), which can be fully and accurately detected by third-generation sequencing (TGS), a new generation of high-throughput DNA sequencing technology. In this study, after failing to identify the causative gene by Sanger sequencing, SNP-array, and whole-exome sequencing (WES), we finally detected a heterozygous gross deletion of PAX3 (10.26kb, chr2: 223153899-223164405) in a WS family by TGS. Our description would enrich the genetic map of WS and help us to further understand this disease. Our findings also demonstrated the value of TGS in clinical genetics researches. |
| first_indexed | 2024-12-19T15:00:26Z |
| format | Article |
| id | doaj.art-b60310122d81427ebdd381655d3562f1 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-19T15:00:26Z |
| publishDate | 2021-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-b60310122d81427ebdd381655d3562f12022-12-21T20:16:35ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-08-011210.3389/fgene.2021.705973705973Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation SequencingJie-Yuan Jin0Jie-Yuan Jin1Lei Zeng2Bing-Bing Guo3Yi Dong4Ju-Yu Tang5Rong Xiang6Rong Xiang7Rong Xiang8Rong Xiang9Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, ChinaSchool of Life Sciences, Central South University, Changsha, ChinaDepartment of Orthopaedics, Xiangya Hospital of Central South University, Changsha, ChinaSchool of Life Sciences, Central South University, Changsha, ChinaSchool of Life Sciences, Central South University, Changsha, ChinaDepartment of Orthopaedics, Xiangya Hospital of Central South University, Changsha, ChinaDepartment of Orthopaedics, Xiangya Hospital of Central South University, Changsha, ChinaSchool of Life Sciences, Central South University, Changsha, ChinaHunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, ChinaHunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, ChinaWaardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis of the medial part of the eyebrows, and deaf-mutism. WS3 is extremely rare, with a unique phenotype (upper limb abnormality). Heterozygous mutations of PAX3 are commonly associated with WS1, whereas partial or total deletions of PAX3 are often observed in WS3 cases. Deletions, together with insertions, translocations, inversions, mobile elements, tandem duplications, and complexes, constitute structural variants (SVs), which can be fully and accurately detected by third-generation sequencing (TGS), a new generation of high-throughput DNA sequencing technology. In this study, after failing to identify the causative gene by Sanger sequencing, SNP-array, and whole-exome sequencing (WES), we finally detected a heterozygous gross deletion of PAX3 (10.26kb, chr2: 223153899-223164405) in a WS family by TGS. Our description would enrich the genetic map of WS and help us to further understand this disease. Our findings also demonstrated the value of TGS in clinical genetics researches.https://www.frontiersin.org/articles/10.3389/fgene.2021.705973/fullPAX3Waardenburg syndromethird generation sequencingstructural variantsdeletion |
| spellingShingle | Jie-Yuan Jin Jie-Yuan Jin Lei Zeng Bing-Bing Guo Yi Dong Ju-Yu Tang Rong Xiang Rong Xiang Rong Xiang Rong Xiang Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing Frontiers in Genetics PAX3 Waardenburg syndrome third generation sequencing structural variants deletion |
| title | Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing |
| title_full | Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing |
| title_fullStr | Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing |
| title_full_unstemmed | Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing |
| title_short | Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing |
| title_sort | case report a novel gross deletion in pax3 10 26 kb identified in a chinese family with waardenburg syndrome by third generation sequencing |
| topic | PAX3 Waardenburg syndrome third generation sequencing structural variants deletion |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.705973/full |
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