Progressive pseudorheumatoid dysplasia in an Omani family: a case report
| Autor: | Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 85-88 (2023) |
| Druh dokumentu: | article |
| ISSN: | 1658-807X 16753593 |
| DOI: | 10.24911/JBCGenetics/183-1675359352 |
| Popis: | 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. [JBCGenetics 2023; 6(1.000): 85-88] |
| Databáze: | Directory of Open Access Journals |
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