![export gtf from snapgene viewer export gtf from snapgene viewer](https://pccrack.org/wp-content/uploads/2020/11/images-9.jpg)
These findings extended the pathogenic variant spectrum of COL1A1, COL1A2, and COL2A1 for type I and type II collagenopathies. Co-occurrence of COL1A1 and WNT1 mutations was found in a patient with a mild OI phenotype but severe osteoporosis. Through whole exome sequencing (WES) complemented with multiplex ligation-dependent probe amplification, we identified the genetic etiologies for six cases with osteogenesis imperfecta (OI) in COL1A1 (p.T1298N, p.Q1280Pfs ∗51, and p.G557Vfs ∗23) and COL1A2 (c.1-1677_133-441del) as well as three cases with spondyloepiphyseal dysplasia congenita in COL2A1 (p.G1041S, p.G654S, and p.G441A). Variations in its clinical presentations highlight diversity in the genetic causes and potential existence of concurrent mutations.
![export gtf from snapgene viewer export gtf from snapgene viewer](https://embed-ssl.wistia.com/deliveries/ebc9b1cf1734804197906e304753cb96.jpg)
![export gtf from snapgene viewer export gtf from snapgene viewer](https://www.snapgene.com/wordpress/wp-content/uploads/2016/09/genbankSnapGene2.jpg)
Meng-Che Tsai 1,2, Yen-Yin Chou 2, Chia-Yi Li 1, Yi-Chieh Wang 1, Hui-Wen Yu 1, Chia-Hsiang Chen 1 and Peng-Chieh Chen 1,3*