In a scientific study, Dr. Amirreza Boroumand succeeded in extensively identifying NF1 mutations in Iranian patients;
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.
Neurofibromatosis Type 1: A Major Genetic Challenge
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.
Using advanced whole-exome sequencing technique, the Iranian research team identified 31 genetic mutations in 32 patients from 22 Iranian families.
Identification of 7 New NF1 Mutations in Iranian Patients
The most important achievement of this study is the identification of seven new mutations that have not been previously reported in any study:
• c.5576 T < >> G
• c.6658_6659insC
• c.2322dupT
• c.92_93insAA
• c.4360C < >> T
• c.3814C < >> T
• c.4565_4566delinsC
The importance of the results for the future of genetic medicine in Iran
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).
Access to Scientific Article
The full text has been published in the Academia.edu Scientific Database, which is available to enthusiasts and researchers.