A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report. Issue 11 (12th November 2022)

• Record Type: Journal Article
• Authors: Zhao, Xiangzhong; Sui, Aihua; Cui, Li; Liu, Zhiying; Zhang, Ruixiao; Han, Yue; Shao, Leping
• Is Part Of: Clinical case reports. Volume 10:Issue 11(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-11-12
• Subjects: ciliopathies -- Jeune asphyxiating thoracic dystrophy -- renal failure -- skeletal ciliopathies -- WDR60 gene; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6561
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : A late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient. The patient presented mild skeletal phenotype, and with renal insufficiency as the initial symptom of the disease.