A Comprehensive Overview of NF1 Mutations in Iranian Patients

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 variant...

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Published in:Neuromolecular medicine 2024-07, Vol.26 (1), p.28, Article 28
Main Authors: Savad, Shahram, Modarressi, Mohammad-Hossein, Younesi, Sarang, Seifi-Alan, Mahnaz, Samadaian, Niusha, Masoomy, Mona, Dianatpour, Mehdi, Norouzi, Shima, Amidi, Saloomeh, Boroumand, Amirreza, Ashrafi, Mahmoud Reza, Ronagh, Alireza, Eslami, Maryam, Hashemnejad, Maryam, Nourian, Shahab, Mohammadi, Sanaz, Taheri Amin, Mohammad Mahdi, Heidari, Morteza, Seifi-Alan, Mahin, Shojaaldini Ardakani, Hossein, Aghamahdi, Fatemeh, Khalilian, Sheyda, Ghafouri-Fard, Soudeh
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Cyclin-dependent kinases
Disease
Gene deletion
Genes
Genetic counseling
Genetic disorders
Genetic variability
Genetics
Genomes
Hospitals
Internal Medicine
Kinases
Laboratories
Medicine
Mutation
Neurofibromatosis
Neurofibromin 1
Neurology
Neurosciences
Pediatrics
Point mutation
Recklinghausen's disease
Research centers
Tumors
Whole genome sequencing
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Summary: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.
ISSN:1559-1174
1535-1084
1559-1174
DOI:10.1007/s12017-024-08790-5