A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Autor: Savad S; Genome-Nilou Laboratory, Tehran, Iran. shahram.savad@yahoo.com., Modarressi MH; Genome-Nilou Laboratory, Tehran, Iran., Younesi S; Prenatal Screening Department, Nilou Laboratory, Tehran, Iran., Seifi-Alan M; Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran., Samadaian N; Genome-Nilou Laboratory, Tehran, Iran., Masoomy M; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Dianatpour M; Stem Cell and Transgenic Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Human Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Norouzi S; Pars-Genome Laboratory, Karaj, Iran., Amidi S; Genome-Nilou Laboratory, Tehran, Iran., Boroumand A; Department of Neurology, Shams Hospital, Mashhad, Iran., Ashrafi MR; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran., Ronagh A; Department of Pediatrics Neurologists, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran., Eslami M; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.; Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Hashemnejad M; Department of Obstetrics and Gynecology, School of Medicine, Kamali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Nourian S; Department of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran., Mohammadi S; Comprehensive Medical Genetics Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Taheri Amin MM; Prenatal Screening Department, Nilou Laboratory, Tehran, Iran., Heidari M; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran., Seifi-Alan M; Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran., Shojaaldini Ardakani H; Department of Medical, Faculty of Medical Sciences, Alborz University of Medical Sciences, Karaj, Iran., Aghamahdi F; Department of Pediatrics, Alborz University of Medical Sciences, Karaj, Iran., Khalilian S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.
Jazyk: angličtina
Zdroj: Neuromolecular medicine [Neuromolecular Med] 2024 Jul 02; Vol. 26 (1), pp. 28. Date of Electronic Publication: 2024 Jul 02.
DOI: 10.1007/s12017-024-08790-5
Abstrakt: 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.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
Externí odkaz: