A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Xiangzhong Zhao; Aihua Sui; Li Cui; Zhiying Liu; Ruixiao Zhang; Yue Han; Leping Shao

doi:10.1002/ccr3.6561

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Clin Case Rep. 2022 Nov 12;10(11):e6561. doi: 10.1002/ccr3.6561. eCollection 2022 Nov.

Authors

Xiangzhong Zhao¹, Aihua Sui¹, Li Cui², Zhiying Liu^{1

3}, Ruixiao Zhang³, Yue Han³, Leping Shao³

Affiliations

¹ Medical Research Center The Affiliated Hospital of Qingdao University Qingdao China.
² Department of Nephrology The Affiliated Hospital of Qingdao University Qingdao People's Republic of China.
³ Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China.

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.

Keywords: Jeune asphyxiating thoracic dystrophy; WDR60 gene; ciliopathies; renal failure; skeletal ciliopathies.

Publication types

Case Reports