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Published: 2023-01-30
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DOI: https://doi.org/10.52852/tcncyh.v160i12V2.1182
Issue
Vol. 160 No. 12V2 (2022)
Section
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Hương, N. T. T. ., Sơn, T. M. ., Dũng, V. C. ., & Khánh, T. V. . (2023). 38. Mutation detection of COL1A1 gene in a patient with osteogenesis imperfecta using next - generation sequencing: A case report. Journal of Medical Research, 160(12V2), 325-329. https://doi.org/10.52852/tcncyh.v160i12V2.1182

38. Mutation detection of COL1A1 gene in a patient with osteogenesis imperfecta using next - generation sequencing: A case report

Nguyen Thi Thu Huong, Tong Minh Son, Vu Chi Dung, Tran Van Khanh

Main Article Content

Abstract

Osteogenesis imperfecta (OI) is a heritable, connective tissue disorder characterized by increased bone fragility, low bone mass, and short stature. More than 90% of cases are caused by mutations in the COL1A1 (OMIM 120150) and COL1A2 (OMIM 120060) genes, which encode collagen type 1 alpha chains. We presented a case of a 10-year-old male with OI type III who was treated at Hanoi National Children's Hospital diagnosed. Gene sequencing was performed for the patient and parents using the next generation sequencing technology. A dominant heterozygous de novo mutation, pathogenic, at exon 8 of the COL1A1 ( c.608G>T, p.Gly203Val) was identified for the patient. Gene testing plays an important role in diagnosis, developing individualized treatment, and genetic counseling.

Article Details

Keywords

osteogenesis imperfecta, COL1A1 mutation, next-generation sequencing

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