A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report

Citation

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).

Abstract

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.

Download File

Text
115332.pdf - Published Version
Restricted to Repository staff only
Download (507kB)

Additional Metadata

Item Type:	Conference or Workshop Item (Paper)
Divisions:	Faculty of Medicine and Health Science
Publisher:	Universitas Gadjah Mada
Keywords:	Dominant osteogenesis imperfecta; Type XII; SP7; Non-union fractures; Pathogenic; ACMG
Depositing User:	Mr. Mohamad Syahrul Nizam Md Ishak
Date Deposited:	03 Mar 2025 06:17
Last Modified:	03 Mar 2025 06:17
URI:	http://psasir.upm.edu.my/id/eprint/115332
Statistic Details:	View Download Statistic

Actions (login required)

View Item