Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica
Objective: To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica (ACD). Methods: We retrospectively analyzed the clinical data of 9 ACD patients. Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | zho |
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editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
2021-06-01
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| Series: | Pifu-xingbing zhenliaoxue zazhi |
| Subjects: | |
| Online Access: | http://pfxbzlx.gdvdc.com/CN/abstract/abstract1941.shtml |
| _version_ | 1797996632328896512 |
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| author | Wanting FENG Fangfang WU Junyi CHEN Bin YANG |
| author_facet | Wanting FENG Fangfang WU Junyi CHEN Bin YANG |
| author_sort | Wanting FENG |
| collection | DOAJ |
| description | Objective: To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica (ACD). Methods: We retrospectively analyzed the clinical data of 9 ACD patients. Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of their parents. Results: Six patients had homozygous mutation of c. 565C>T. Four of them were identified as autosomal recessive inheritance. Mutation of either c. 660T>G, or c. 1056_1056delT, or c. 754G>A each was found in one patient. Conclusions: c.565C>T may be a common mutation site in ACD patients in China. The pathogenesis and function of the new mutation, c. 754G>A, warrant further study. |
| first_indexed | 2024-04-11T10:20:28Z |
| format | Article |
| id | doaj.art-5ff5c2641403445083ab54a02004c4c7 |
| institution | Directory Open Access Journal |
| issn | 1674-8468 |
| language | zho |
| last_indexed | 2024-04-11T10:20:28Z |
| publishDate | 2021-06-01 |
| publisher | editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology |
| record_format | Article |
| series | Pifu-xingbing zhenliaoxue zazhi |
| spelling | doaj.art-5ff5c2641403445083ab54a02004c4c72022-12-22T04:29:46Zzhoeditoiral office of Journal of Diagnosis and Therapy on Dermato-venereologyPifu-xingbing zhenliaoxue zazhi1674-84682021-06-01283170173,18910.3969/j.issn.1674-8468.2021.03.003Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromicaWanting FENG0Fangfang WU1Junyi CHEN2Bin YANG3The First Clinical Medical College, Guangdong Medical University, Zhanjiang 524000, ChinaDermatology Hospital, Southern Medical University, Guangzhou 510091, ChinaDermatology Hospital, Southern Medical University, Guangzhou 510091, ChinaThe First Clinical Medical College, Guangdong Medical University, Zhanjiang 524000, ChinaObjective: To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica (ACD). Methods: We retrospectively analyzed the clinical data of 9 ACD patients. Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of their parents. Results: Six patients had homozygous mutation of c. 565C>T. Four of them were identified as autosomal recessive inheritance. Mutation of either c. 660T>G, or c. 1056_1056delT, or c. 754G>A each was found in one patient. Conclusions: c.565C>T may be a common mutation site in ACD patients in China. The pathogenesis and function of the new mutation, c. 754G>A, warrant further study.http://pfxbzlx.gdvdc.com/CN/abstract/abstract1941.shtmlamyloidosis cutis dyschromicprimary cutaneous amyloidosisgpnmb gene |
| spellingShingle | Wanting FENG Fangfang WU Junyi CHEN Bin YANG Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica Pifu-xingbing zhenliaoxue zazhi amyloidosis cutis dyschromic primary cutaneous amyloidosis gpnmb gene |
| title | Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica |
| title_full | Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica |
| title_fullStr | Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica |
| title_full_unstemmed | Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica |
| title_short | Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica |
| title_sort | sequence analysis of gpnmb in 9 patients with amyloidosis cutis dyschromica |
| topic | amyloidosis cutis dyschromic primary cutaneous amyloidosis gpnmb gene |
| url | http://pfxbzlx.gdvdc.com/CN/abstract/abstract1941.shtml |
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