Clinical genetics of spondylocostal dysostosis: A mini review
Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such severe conditions. The identification of novel ca...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.996364/full |
| _version_ | 1811212330026926080 |
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| author | Muhammad Umair Muhammad Younus Sarfraz Shafiq Anam Nayab Majid Alfadhel Majid Alfadhel |
| author_facet | Muhammad Umair Muhammad Younus Sarfraz Shafiq Anam Nayab Majid Alfadhel Majid Alfadhel |
| author_sort | Muhammad Umair |
| collection | DOAJ |
| description | Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such severe conditions. The identification of novel candidate genes enabled us to understand the developmental biology and molecular and cellular mechanisms involved in the etiology of these rare diseases. Here, we discuss the clinical and molecular targets associated with spondylocostal dysostosis, including clinical evaluation, genes, and pathways involved. This review might help us understand the basics of such a severe disorder, which might help in proper clinical characterization and help in future therapeutic strategies. |
| first_indexed | 2024-04-12T05:27:33Z |
| format | Article |
| id | doaj.art-00908dea43cb4aaeb5a29f2412d749c8 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T05:27:33Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-00908dea43cb4aaeb5a29f2412d749c82022-12-22T03:46:12ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-11-011310.3389/fgene.2022.996364996364Clinical genetics of spondylocostal dysostosis: A mini reviewMuhammad Umair0Muhammad Younus1Sarfraz Shafiq2Anam Nayab3Majid Alfadhel4Majid Alfadhel5Medical Genomics Research Department, Ministry of National Guard Health Affairs (MNGH), King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaState Key Laboratory of Membrane Biology and Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Institute of Molecular Medicine, College of Future Technology and Peking-Tsinghua Center for Life Sciences and PKU-IDG/McGovern Institute for Brain Research, Peking University, Beijing, ChinaDepartment of Anatomy and Cell Biology, University of Western Ontario, London, ON, CanadaDepartment of Biotechnology, Fatima Jinnah Women University, Rawalpindi, PakistanMedical Genomics Research Department, Ministry of National Guard Health Affairs (MNGH), King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaGenetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi ArabiaSpondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such severe conditions. The identification of novel candidate genes enabled us to understand the developmental biology and molecular and cellular mechanisms involved in the etiology of these rare diseases. Here, we discuss the clinical and molecular targets associated with spondylocostal dysostosis, including clinical evaluation, genes, and pathways involved. This review might help us understand the basics of such a severe disorder, which might help in proper clinical characterization and help in future therapeutic strategies.https://www.frontiersin.org/articles/10.3389/fgene.2022.996364/fullSpondylocostal dysostosisSCDOGenetic skeletal disordersSCDO1-7Notch-signaling pathway |
| spellingShingle | Muhammad Umair Muhammad Younus Sarfraz Shafiq Anam Nayab Majid Alfadhel Majid Alfadhel Clinical genetics of spondylocostal dysostosis: A mini review Frontiers in Genetics Spondylocostal dysostosis SCDO Genetic skeletal disorders SCDO1-7 Notch-signaling pathway |
| title | Clinical genetics of spondylocostal dysostosis: A mini review |
| title_full | Clinical genetics of spondylocostal dysostosis: A mini review |
| title_fullStr | Clinical genetics of spondylocostal dysostosis: A mini review |
| title_full_unstemmed | Clinical genetics of spondylocostal dysostosis: A mini review |
| title_short | Clinical genetics of spondylocostal dysostosis: A mini review |
| title_sort | clinical genetics of spondylocostal dysostosis a mini review |
| topic | Spondylocostal dysostosis SCDO Genetic skeletal disorders SCDO1-7 Notch-signaling pathway |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.996364/full |
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