A First-Case Report of Pycnodysostosis in an Omani Boy

Abstract

Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the patient's deoxyribonucleic acid revealed a variant in the cathepsin K gene, which was confirmed by Sanger sequencing. These findings established the diagnosis of pycnodysostosis (PKND). To the best of the authors' knowledge, this case is the first case to be reported in the Gulf Cooperative Region of the novel PKND with molecular confirmation.

Keywords

pycnodysostosis (PKND) - cathepsin K (CTSK) - genetics

^* Co-First authors.

The co-first authors contributed equally to this manuscript.

Publication History

Received: 15 April 2020

Accepted: 08 June 2020

Article published online:
04 August 2020

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