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Published: 2021-12-07
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DOI: https://doi.org/10.52852/tcncyh.v147i11.505
Issue
Vol. 147 No. 11 (2021)
Section
Các bài báo
How to Cite
Lương, T. L. A., Đoàn, T. K. P., Trần, Đức P., Hoàng, T. N. L., Nguyễn , T. M. N., & Đào Thị, T. (2021). Report of three cases of neurofibromatosis type 1 and the role of genetic counseling. Journal of Medical Research, 147(11), 273-280. https://doi.org/10.52852/tcncyh.v147i11.505

Report of three cases of neurofibromatosis type 1 and the role of genetic counseling

Luong Thi Lan Anh, Doan Thi Kim Phuong, Tran Duc Phan, Hoang Thi Ngoc Lan, Nguyen Thi Minh Ngoc, Dao Thi Trang

Main Article Content

Abstract

Neurofibromatosis type 1 is an autosomal dominant disease caused by mutations of the neurofibromin gene (NF1). Its clinical manifestations include neurofibroma tumors, typically on the skin. This article aimed to report three NF1 cases with different characteristics on symptoms, pedigree, mutation analysis, and genetic counseling. Our method included the investigation of pedigree, historical medical record and clinical examination. NF1 mutations were tested by next generation sequencing and/or Sanger sequencing. Phenotypes of NF1 patients were extremely variable, with or without a positive family history of the disease. Genotypes of these cases were unique but all leading to stop gained. Genetic counseling provided information on the progression and possible complications of this disorder, current treatment therapies, mode of inheritance, origins of mutations, the risk of inheriting a mutation to offspring. Molecular genetic testing for the identification of a pathogenic variant is essential for early diagnosis, prenatal or preimplantation genetic testing.

Article Details

Keywords

Genetic disease, neurofibromatosis type 1, NF1 gene, NF1 prenatal diagnosis.

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