A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by increased bone fragility, low bone density, and frequent fractures. Although most cases are associated with mutations in collagen genes (COL1A1 and COL1A2), non-collagen gene mutations, such as those in SP7, have been linked...
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| Format: | Conference or Workshop Item |
| Language: | English |
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Universitas Gadjah Mada
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/115332/ http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf |
| _version_ | 1848866749134405632 |
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| author | Teh, Hui Wen Lee, Yee Lin Musa, Nurul Huda Thilakavathy, Karuppiah |
| author_facet | Teh, Hui Wen Lee, Yee Lin Musa, Nurul Huda Thilakavathy, Karuppiah |
| author_sort | Teh, Hui Wen |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by increased bone
fragility, low bone density, and frequent fractures. Although most cases are associated
with mutations in collagen genes (COL1A1 and COL1A2), non-collagen gene mutations,
such as those in SP7, have been linked to OI type XII. Here, we report on a Malaysian
family affected by a rare SP7 variant. |
| first_indexed | 2025-11-15T14:25:33Z |
| format | Conference or Workshop Item |
| id | upm-115332 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T14:25:33Z |
| publishDate | 2024 |
| publisher | Universitas Gadjah Mada |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-1153322025-03-03T06:17:47Z http://psasir.upm.edu.my/id/eprint/115332/ A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report Teh, Hui Wen Lee, Yee Lin Musa, Nurul Huda Thilakavathy, Karuppiah Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by increased bone fragility, low bone density, and frequent fractures. Although most cases are associated with mutations in collagen genes (COL1A1 and COL1A2), non-collagen gene mutations, such as those in SP7, have been linked to OI type XII. Here, we report on a Malaysian family affected by a rare SP7 variant. Universitas Gadjah Mada 2024 Conference or Workshop Item PeerReviewed text en http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf Teh, Hui Wen and Lee, Yee Lin and Musa, Nurul Huda and Thilakavathy, Karuppiah (2024) A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report. In: 5th International Symposium on Congenital Anomaly and Developmental Biology (ISCADB) 2024, 15-16 Nov. 2024 (pp. 12-13). |
| spellingShingle | Teh, Hui Wen Lee, Yee Lin Musa, Nurul Huda Thilakavathy, Karuppiah A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report |
| title | A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian
family with Osteogenesis Imperfecta Type XII: a case report |
| title_full | A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian
family with Osteogenesis Imperfecta Type XII: a case report |
| title_fullStr | A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian
family with Osteogenesis Imperfecta Type XII: a case report |
| title_full_unstemmed | A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian
family with Osteogenesis Imperfecta Type XII: a case report |
| title_short | A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian
family with Osteogenesis Imperfecta Type XII: a case report |
| title_sort | rare heterozygous sp7 variant c.1019a>c (p.glu340ala) in a malaysian
family with osteogenesis imperfecta type xii: a case report |
| url | http://psasir.upm.edu.my/id/eprint/115332/ http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf |