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:: Volume 19, Issue 2 (7-2017) ::
J Gorgan Univ Med Sci 2017, 19(2): 104-108 Back to browse issues page
A neurofibromatosis type 1 family report with multiple cases in 3 consecutive Generations
M Oladnabi * 1, T Haddadi2 , K Kianmehr3 , N Mansour Samaei4 , M Mehri5
1- Assistant Professor, Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran , oladnabidozin@yahoo.com
2- Nurse, School of Nursing and Midwifery, Golestan University of Medical Sciences, Gorgan, Iran
3- Assistant Professor, Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
4- Assistant Professor, Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
5- Assistant Professor, Department of Internal Medicine, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
Keywords: Neurofibromatosis type 1, Neurofibromin, Mutation
Full-Text [PDF 232 kb] [English Abstract]   (14032 Downloads)     |   Abstract (HTML)  (8211 Views)
Type of Study: Case Report | Subject: Genetic
Abstract:   (1060 Views)

Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it were reported. The gene with 100 percent penetrance is located on chromosome 17 encoding neurofibromin protein. Recently, many challenges of its genetic analysis have been overcome through the application of new sequencing techniques. In present study patients with neurofibromatosis type 1 have been characterized from clinical symptoms such as presence of café au lait spot, plexiform neurofibroma, optic nerves involvement, presence of several patients in first degree relatives. These patients were in different ages including 73, 63, 44, 20 with different symptoms and severities of disease. In this communication, a NF1 family with 4 cases in 3 generations has been presented.

References
1. Sabol Z, Kipke-Sabol L. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene]. Lijec Vjesn. 2005 Nov-Dec; 127(11-12): 303-11. [Article in Croatian]
2. Ghalayani P, Saberi Z, Sardari F. Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review. Dent Res J (Isfahan). 2012 Jul-Aug; 9(4): 483-88.
3. Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 2015 May;15(5):290-301. doi:10.1038/nrc3911
4. Luo G, Kim J, Song K.6. Luo G, Kim J, Song K. The C-terminal domains of human neurofibromin and its budding yeast homologs Ira1 and Ira2 regulate the metaphase to anaphase transition. Cell Cycle. 2014 Sep; 13(17): 2780-89. doi:10.4161/15384101.2015.945870
5. Zhang J, Tong H, Fu X, Zhang Y, Liu J, Cheng R, et al. Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. Sci Rep. 2015; 5: 11291. doi:10.1038/srep11291
6. [No authors listed]. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988 May;45(5):575-8.
7. Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol. 2002 Aug;17(8):548-54.
8. Riccardi VM, Lewis RA. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet. 1988 Feb;42(2):284-9.
9. Riccardi VM. Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer. 1982 Aug;7(2):1-34.
10. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009 Jul;61(1):1-14. doi:10.1016/j.jaad.2008.12.051
11. Sharma A, Sengupta P, Das AKR. Isolated Plexiform Neurofibroma of the Tongue. J Lab Physicians. 2013 Jul-Dec; 5(2): 127-29. doi:10.4103/0974-2727.119867
12. Hirbe AC, Dahiya S, Miller CA, Li T, Fulton RS, Zhang X, et al. Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma. Clin Cancer Res. 2015 Sep; 21(18):4201-11. doi:10.1158/1078-0432.CCR-14-3049
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Oladnabi M, Haddadi T, Kianmehr K, Mansour Samaei N, Mehri M. A neurofibromatosis type 1 family report with multiple cases in 3 consecutive Generations. J Gorgan Univ Med Sci 2017; 19 (2) :104-108
URL: http://goums.ac.ir/journal/article-1-3085-en.html


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Volume 19, Issue 2 (7-2017) Back to browse issues page
مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
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