A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
Abstract We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6561 |
| _version_ | 1811185778365038592 |
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| author | Xiangzhong Zhao Aihua Sui Li Cui Zhiying Liu Ruixiao Zhang Yue Han Leping Shao |
| author_facet | Xiangzhong Zhao Aihua Sui Li Cui Zhiying Liu Ruixiao Zhang Yue Han Leping Shao |
| author_sort | Xiangzhong Zhao |
| collection | DOAJ |
| description | Abstract We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this disease. |
| first_indexed | 2024-04-11T13:35:02Z |
| format | Article |
| id | doaj.art-0a297ad00fa74983a2b8f4a0cea7eb55 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-11T13:35:02Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-0a297ad00fa74983a2b8f4a0cea7eb552022-12-22T04:21:30ZengWileyClinical Case Reports2050-09042022-11-011011n/an/a10.1002/ccr3.6561A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case reportXiangzhong Zhao0Aihua Sui1Li Cui2Zhiying Liu3Ruixiao Zhang4Yue Han5Leping Shao6Medical Research Center The Affiliated Hospital of Qingdao University Qingdao ChinaMedical Research Center The Affiliated Hospital of Qingdao University Qingdao ChinaDepartment of Nephrology The Affiliated Hospital of Qingdao University Qingdao People's Republic of ChinaMedical Research Center The Affiliated Hospital of Qingdao University Qingdao ChinaDepartment of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao ChinaDepartment of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao ChinaDepartment of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao ChinaAbstract We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this disease.https://doi.org/10.1002/ccr3.6561ciliopathiesJeune asphyxiating thoracic dystrophyrenal failureskeletal ciliopathiesWDR60 gene |
| spellingShingle | Xiangzhong Zhao Aihua Sui Li Cui Zhiying Liu Ruixiao Zhang Yue Han Leping Shao A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report Clinical Case Reports ciliopathies Jeune asphyxiating thoracic dystrophy renal failure skeletal ciliopathies WDR60 gene |
| title | A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report |
| title_full | A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report |
| title_fullStr | A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report |
| title_full_unstemmed | A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report |
| title_short | A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report |
| title_sort | novel wdr60 variant contributes to a late diagnosis of jeune asphyxiating thoracic dystrophy in a chinese patient a case report |
| topic | ciliopathies Jeune asphyxiating thoracic dystrophy renal failure skeletal ciliopathies WDR60 gene |
| url | https://doi.org/10.1002/ccr3.6561 |
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