Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
Key Clinical Message The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-04-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.2073 |
| _version_ | 1818481147427946496 |
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| author | Yudian Qiu Tao Xuan Mujun Yin Zhidong Gao Peng Guo Xi Chen Yingjiang Ye Zhanlong Shen |
| author_facet | Yudian Qiu Tao Xuan Mujun Yin Zhidong Gao Peng Guo Xi Chen Yingjiang Ye Zhanlong Shen |
| author_sort | Yudian Qiu |
| collection | DOAJ |
| description | Key Clinical Message The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development of this familial PJS polyps. |
| first_indexed | 2024-12-10T11:31:06Z |
| format | Article |
| id | doaj.art-c111357947f44a5b94c727473d4374af |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-10T11:31:06Z |
| publishDate | 2019-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-c111357947f44a5b94c727473d4374af2022-12-22T01:50:34ZengWileyClinical Case Reports2050-09042019-04-017473573910.1002/ccr3.2073Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndromeYudian Qiu0Tao Xuan1Mujun Yin2Zhidong Gao3Peng Guo4Xi Chen5Yingjiang Ye6Zhanlong Shen7Peking University People's Hospital Beijing ChinaGeneplus Co. Ltd Beijing ChinaDepartment of Gastroenterological Surgery Peking University People's Hospital Beijing ChinaDepartment of Gastroenterological Surgery Peking University People's Hospital Beijing ChinaDepartment of Gastroenterological Surgery Peking University People's Hospital Beijing ChinaPeking University People's Hospital Beijing ChinaDepartment of Gastroenterological Surgery Peking University People's Hospital Beijing ChinaDepartment of Gastroenterological Surgery Peking University People's Hospital Beijing ChinaKey Clinical Message The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development of this familial PJS polyps.https://doi.org/10.1002/ccr3.2073germline variantshigh‐throughput sequencingPeutz‐Jeghers syndromesomatic gene variantsSTK11 |
| spellingShingle | Yudian Qiu Tao Xuan Mujun Yin Zhidong Gao Peng Guo Xi Chen Yingjiang Ye Zhanlong Shen Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome Clinical Case Reports germline variants high‐throughput sequencing Peutz‐Jeghers syndrome somatic gene variants STK11 |
| title | Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome |
| title_full | Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome |
| title_fullStr | Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome |
| title_full_unstemmed | Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome |
| title_short | Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome |
| title_sort | clinical characteristics and genetic analysis of gene mutations in a chinese pedigree with peutz jeghers syndrome |
| topic | germline variants high‐throughput sequencing Peutz‐Jeghers syndrome somatic gene variants STK11 |
| url | https://doi.org/10.1002/ccr3.2073 |
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