Case Report
Volume: 6 | Issue: 1 | Published: Mar 21, 2023 | Pages: 85 - 88 | DOI: 10.24911/JBCGenetics/183-1675359352
Progressive pseudorheumatoid dysplasia in an Omani family: a case report
Authors: Zuha Alkhaldi , Moosa Allawati , Nadia Alhashmi
Article Info
Authors
Zuha Alkhaldi
Medical Intern, Sultan Qaboos University, Muscat, Sultanate of Oman
Moosa Allawati
Medical Intern, Sultan Qaboos University, Muscat, Sultanate of Oman
Nadia Alhashmi
Senior Consultant, Clinical & Biochemical Geneticist, Child Health Department, Royal Hospital, Muscat, Sultanate of Oman.
Publication History
Received: February 02, 2023
Revised: March 04, 2023
Accepted: March 05, 2023
Published: March 21, 2023
Abstract
Background: Progressive pseudorheumatoid dysplasia (PPRD) is an inherited autosomal recessive musculoskeletal condition caused by mutations in the Cellular Communication Network Factor 6 (CCN6) gene. This causes a variety of clinical features such as short stature, genu varum, etc. Case Presentation: This study reported cases of three patients from the same family who exhibited the clinical features of PPRD, and the condition was diagnosed through confirmatory genetic testing. The whole exome sequencing test results for the 15-year-old and 3-year-old males revealed a class-5 pathogenic homozygous mutation in the CCN6 gene, resulting in both individuals being diagnosed with autosomal recessive PPRD. The results for the third patient had not come out yet. Conclusion: For patients with PPRD, it is necessary to take the full family history and genetic testing that might help in the diagnosis and treatment of the condition.
Keywords: Case report, progressive pseudorheumatoid dysplasia, CCN6, PPRD, Oman
