COI code: CIGS15_069
Paper Language: English
How to Download This Paper
For Downloading the Fulltext of CIVILICA papers please visit the orginal Persian Section of website.
Authors A Novel Mutation in Neurofibromatosis 1 (Case Report)Homa Bazireh - M.Sc Biotechnology, Department of Industrial and Environmental Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
Saeed Morovati - Associate Professor, Department of Human Genetics Research Centre, Baqiyatallah University of Medical Science, Tehran, Iran
Abstract:Neurofibromatosis 1 (NF1) is the most common inheritable disease with estimated birth incidence of 1:3,000. Neurofibromatosis 1 is an autosomal dominant inherited disorder caused by germ line mutations in the NF1 tumor suppressor gene located on chromosome 17q11.2. NF1 (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic neural crest. Further, this disorder is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Methods:A 31 year-old lady with clinical presentation of Neurofibromatosis referred to Biogene Clinical and Genetics Laboratory in 2016. She had a positive family history of the disease including her father and some other members in the pedigree. Blood sample was obtained then Nimblegen chip capturing the genes of NF1 and NF2 followed by Next Generation Sequencing was conducted.Results: New likely pathogenic mutation (c.1261-2A> G, Het) on NF1 gene of the sample has been detected.Conclusions: Although c.1261-2A> G mutation has not been reported previously, the frequencies of it in normal population are very low, and the splice mutation is expected to affect the mRNA’s splicing. The splice mutation c.1261-2A> G on NF1 gene, is possible to be the pathogenic mutation of the sample which is consistent with the clinical diagnosis. Another variant identified in NF1 gene of this patient was c.289-7A> G mutation in a heterozygous state.
Keywords:Neurofibromatosis 1; NF1 Mutation; next generation sequencing (NGS)
COI code: CIGS15_069
how to cite to this paper:If you want to refer to this article in your research, you can easily use the following in the resources and references section:
Bazireh, Homa & Saeed Morovati, 2018, A Novel Mutation in Neurofibromatosis 1 (Case Report), The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_069.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Bazireh, Homa & Saeed Morovati, 2018)
Second and more: (Bazireh & Morovati, 2018)
For a complete overview of how to citation please review the following CIVILICA Guide (Citation)
The University/Research Center Information:
Type: Research Center
Paper No.: 936
in University Ranking and Scientometrics the Iranian universities and research centers are evaluated based on scientific papers.
Research Info Management
Export Citation info of this paper to research management softwares
New Related Papers
- Attenuation of inflammation genes expression by Juglans regia extract in an Osteoarthritis in vitro like-model.
- Identification of novel short tandem repeats based markers in the expressed sequence of Malus domestica Borkh.
- In silico study of anti-CCHFV effect of lactoferrin from different origin
- Optimization of DNA extraction from different tissues of a medicinal plant, Senecio vulgaris L.
- Design and construction of a new operator: A new attempt to improve protein expression under industrial condition
The Above articles are recently indexed in the related subjects
Iran Scientific Advertisment Netword
Share this paper
WHAT IS COI?
COI is a national code dedicated to all Iranian Conference and Journal Papers. the COI of each paper can be verified online.