Vol.:(0123456789) NeuroMolecular Medicine (2024) 26:28 https://doi.org/10.1007/s12017-024-08790-5 RESEARCH A Comprehensive Overview of NF1 Mutations in Iranian Patients Shahram Savad 1  · Mohammad‑Hossein Modarressi 1  · Sarang Younesi 2  · Mahnaz Seifi‑Alan 3  · Niusha Samadaian 1  · Mona Masoomy 4  · Mehdi Dianatpour 5,6  · Shima Norouzi 7  · Saloomeh Amidi 1  · Amirreza Boroumand 8  · Mahmoud Reza Ashrafi 9  · Alireza Ronagh 10  · Maryam Eslami 4,11  · Maryam Hashemnejad 12  · Shahab Nourian 13  · Sanaz Mohammadi 14  · Mohammad Mahdi Taheri Amin 2  · Morteza Heidari 9  · Mahin Seifi‑Alan 3  · Hossein Shojaaldini Ardakani 15  · Fatemeh Aghamahdi 16  · Sheyda Khalilian 17  · Soudeh Ghafouri‑Fard 17 Received: 16 March 2024 / Accepted: 30 April 2024 © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024 Abstract Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families. Keywords NF1 · Mutation · Iran * Shahram Savad shahram.savad@yahoo.com * Soudeh Ghafouri-Fard s.ghafourifard@sbmu.ac.ir 1 Genome-Nilou Laboratory, Tehran, Iran 2 Prenatal Screening Department, Nilou Laboratory, Tehran, Iran 3 Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran 4 Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran 5 Stem Cell and Transgenic Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran 6 Department of Human Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran 7 Pars-Genome Laboratory, Karaj, Iran 8 Department of Neurology, Shams Hospital, Mashhad, Iran 9 Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran 10 Department of Pediatrics Neurologists, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran 11 Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran 12 Department of Obstetrics and Gynecology, School of Medicine, Kamali Hospital, Alborz University of Medical Sciences, Karaj, Iran 13 Department of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran 14 Comprehensive Medical Genetics Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran 15 Department of Medical, Faculty of Medical Sciences, Alborz University of Medical Sciences, Karaj, Iran 16 Department of Pediatrics, Alborz University of Medical Sciences, Karaj, Iran 17 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran Content courtesy of Springer Nature, terms of use apply. Rights reserved.