{"id":8712,"date":"2025-05-07T19:36:54","date_gmt":"2025-05-07T16:06:54","guid":{"rendered":"https:\/\/drboroumandp7.com\/discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country\/"},"modified":"2025-05-08T09:04:46","modified_gmt":"2025-05-08T05:34:46","slug":"discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country","status":"publish","type":"post","link":"https:\/\/drboroumandp7.com\/en\/discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country\/","title":{"rendered":"Discovery of NF1 Mutations in Iranian Patients: The Largest Genetic Study in the Country"},"content":{"rendered":"\n<p>In a scientific study,<a href=\"https:\/\/drboroumandp7.com\/en\/dr-amirreza-boroumand\/\"> Dr. Amirreza Boroumand<\/a> succeeded in extensively identifying NF1 mutations in Iranian patients; <\/p>\n\n<p>This research is the largest genetic study in terms of sample size in Iran and can revolutionize genetic counseling and the diagnosis of hereditary diseases.<\/p>\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 ez-toc-wrap-right counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u0622\u0646\u0686\u0647 \u062f\u0631 \u0627\u06cc\u0646 \u0646\u0648\u0634\u062a\u0647 \u0645\u06cc \u062e\u0648\u0627\u0646\u06cc\u062f<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/drboroumandp7.com\/en\/discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country\/#Neurofibromatosis_Type_1_A_Major_Genetic_Challenge\" >Neurofibromatosis Type 1: A Major Genetic Challenge<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/drboroumandp7.com\/en\/discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country\/#Identification_of_7_New_NF1_Mutations_in_Iranian_Patients\" >Identification of 7 New NF1 Mutations in Iranian Patients<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/drboroumandp7.com\/en\/discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country\/#The_importance_of_the_results_for_the_future_of_genetic_medicine_in_Iran\" >The importance of the results for the future of genetic medicine in Iran<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/drboroumandp7.com\/en\/discovery-of-nf1-mutations-in-iranian-patients-the-largest-genetic-study-in-the-country\/#Access_to_Scientific_Article\" >Access to Scientific Article<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Neurofibromatosis_Type_1_A_Major_Genetic_Challenge\"><\/span>Neurofibromatosis Type 1: A Major Genetic Challenge<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>Neurofibromatosis type 1 (NF1) is a complex and rare genetic disease that always occurs in patients carrying the mutation. This disease is associated with a variety of clinical characteristics. <\/p>\n\n<p>Using advanced whole-exome sequencing technique, the Iranian research team identified 31 genetic mutations in 32 patients from 22 Iranian families.<\/p>\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Identification_of_7_New_NF1_Mutations_in_Iranian_Patients\"><\/span>Identification of 7 New NF1 Mutations in Iranian Patients<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>The most important achievement of this study is the identification of seven new mutations that have not been previously reported in any study:<br\/>\u2022 c.5576 T &lt; &gt;&gt; G<br\/>\u2022 c.6658_6659insC<br\/>\u2022 c.2322dupT<br\/>\u2022 c.92_93insAA<br\/>\u2022 c.4360C &lt; &gt;&gt; T<br\/>\u2022 c.3814C &lt; &gt;&gt; T<br\/>\u2022 c.4565_4566delinsC <\/p>\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_importance_of_the_results_for_the_future_of_genetic_medicine_in_Iran\"><\/span>The importance of the results for the future of genetic medicine in Iran<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>These findings can help to expand the map of gene mutations and improve the process of diagnosis, treatment, and genetic counseling in Iranian patients (NF1 mutations in Iranian patients). <\/p>\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Access_to_Scientific_Article\"><\/span>Access to Scientific Article<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>The full text has been published in the <a href=\"https:\/\/www.academia.edu\/126107299\/A_Comprehensive_Overview_of_NF1_Mutations_in_Iranian_Patients\">Academia.edu<\/a> Scientific Database, which is available to enthusiasts and researchers.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>In a scientific study, Dr. Amirreza Boroumand succeeded in extensively identifying NF1 mutations in Iranian patients; This research is the [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":8710,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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