Progressive pseudorheumatoid dysplasia in an Omani family: a case report
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...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2023-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=142654 |
| _version_ | 1797816616045510656 |
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| author | Zuha Alkhaldi Moosa Allawati Nadia Alhashmi |
| author_facet | Zuha Alkhaldi Moosa Allawati Nadia Alhashmi |
| author_sort | Zuha Alkhaldi |
| collection | DOAJ |
| description | 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] |
| first_indexed | 2024-03-13T08:41:17Z |
| format | Article |
| id | doaj.art-a2f027a53aa146e795ab4c8f6db10579 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:17Z |
| publishDate | 2023-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-a2f027a53aa146e795ab4c8f6db105792023-05-30T11:51:13ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2023-06-0161858810.24911/JBCGenetics/183-1675359352142654Progressive pseudorheumatoid dysplasia in an Omani family: a case reportZuha Alkhaldi0Moosa Allawati1Nadia Alhashmi2Medical Intern, Sultan Qaboos University, Muscat, Sultanate of Oman Medical Intern, Sultan Qaboos University, Muscat, Sultanate of Oman Senior Consultant, Clinical & Biochemical Geneticist, Child Health Department, Royal Hospital, Muscat, Sultanate of Oman.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]http://www.ejmanager.com/fulltextpdf.php?mno=142654case reportprogressive pseudorheumatoid dysplasiaccn6pprdoman |
| spellingShingle | Zuha Alkhaldi Moosa Allawati Nadia Alhashmi Progressive pseudorheumatoid dysplasia in an Omani family: a case report Journal of Biochemical and Clinical Genetics case report progressive pseudorheumatoid dysplasia ccn6 pprd oman |
| title | Progressive pseudorheumatoid dysplasia in an Omani family: a case report |
| title_full | Progressive pseudorheumatoid dysplasia in an Omani family: a case report |
| title_fullStr | Progressive pseudorheumatoid dysplasia in an Omani family: a case report |
| title_full_unstemmed | Progressive pseudorheumatoid dysplasia in an Omani family: a case report |
| title_short | Progressive pseudorheumatoid dysplasia in an Omani family: a case report |
| title_sort | progressive pseudorheumatoid dysplasia in an omani family a case report |
| topic | case report progressive pseudorheumatoid dysplasia ccn6 pprd oman |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=142654 |
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