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

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.

Keywords

• ciliopathies
• Jeune asphyxiating thoracic dystrophy
• renal failure
• skeletal ciliopathies
• WDR60 gene