Volume 29, Issue 3 (8-2026)
J Arak Uni Med Sci 2026, 29(3): 0-0 |
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Sadati S A, Bayat S, Khodadadi R, Gholami M. Identification of a premature stop codon variant in the NF1 gene using whole exome sequencing in a female with neurofibromatosis type 1. J Arak Uni Med Sci 2026; 29 (3)
URL: http://jams.arakmu.ac.ir/article-1-8024-en.html
URL: http://jams.arakmu.ac.ir/article-1-8024-en.html
1- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
2- Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran
3- Department of Biology, Faculty of Science, Arak University, Arak, Iran
4- Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran ,mtu.q220@gmail.com
2- Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran
3- Department of Biology, Faculty of Science, Arak University, Arak, Iran
4- Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran ,
Abstract: (69 Views)
Introduction: Neurofibromatosis type 1 is an autosomal dominant disorder caused by mutations in the neurofibromin tumor suppressor gene. This condition exhibits a high prevalence, dominant penetrance, and variable expression, and is characterized by manifestations such as neurofibromas, café-au-lait spots, and Lisch nodules. Neurofibromin is one of the largest human genes with a high rate of spontaneous mutations. As a result, they can be present in both sporadic and inherited forms. The aim of this study was to genetically investigate a woman with neurofibromatosis-like manifestations by whole-exome sequencing.
Methods: The patient exhibited neurofibromatosis-like manifestations, inherited from a healthy father and mother who died of similar symptoms. Peripheral blood (6ml) was collected from both the proband and her father. Following DNA extraction, the patient underwent whole-exome sequencing, whereas her father underwent Sanger sequencing.
Results: The study showed that proband had a heterozygous c.910 C>T variant in the NF1 gene. This missense variant occurs in exon 9 of the gene and results in a dysfunctional protein owing a premature stop codon. Sanger sequencing of the affected father did not reveal any variant in this gene.
Conclusions: The c.910 C>T variant in the neurofibromin gene leads to the production of a truncated protein that lacks function, resulting in neurofibromatosis. Although this disease is somewhat resistant to therapy, due to its hereditary, prenatal testing can help ensure the health of the fetus and provide symptom management and treatment for affected individuals. Furthermore, due to the mutational and genetic heterogeneity of neurofibromatosis and the long length of the NF1 gene, high-throughput exome sequencing is recommended to identify the cause of the disease and detect point variants.
Methods: The patient exhibited neurofibromatosis-like manifestations, inherited from a healthy father and mother who died of similar symptoms. Peripheral blood (6ml) was collected from both the proband and her father. Following DNA extraction, the patient underwent whole-exome sequencing, whereas her father underwent Sanger sequencing.
Results: The study showed that proband had a heterozygous c.910 C>T variant in the NF1 gene. This missense variant occurs in exon 9 of the gene and results in a dysfunctional protein owing a premature stop codon. Sanger sequencing of the affected father did not reveal any variant in this gene.
Conclusions: The c.910 C>T variant in the neurofibromin gene leads to the production of a truncated protein that lacks function, resulting in neurofibromatosis. Although this disease is somewhat resistant to therapy, due to its hereditary, prenatal testing can help ensure the health of the fetus and provide symptom management and treatment for affected individuals. Furthermore, due to the mutational and genetic heterogeneity of neurofibromatosis and the long length of the NF1 gene, high-throughput exome sequencing is recommended to identify the cause of the disease and detect point variants.
Type of Study: Original Atricle |
Subject:
Basic Sciences
Received: 2025/05/26 | Accepted: 2025/06/25
Received: 2025/05/26 | Accepted: 2025/06/25
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