Evidence map›Paper›PMID 38954284›Full record

ArticleNeuromolecular medicine2024

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Shahram Savad, Mohammad-Hossein Modarressi, Sarang Younesi, Mahnaz Seifi-Alan, Niusha Samadaian, Mona Masoomy, Mehdi Dianatpour, Shima Norouzi, Saloomeh Amidi, Amirreza Boroumand and 13 more

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Article in Neuromolecular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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5 · Who and what money

Authors and funding

23 authors.

Shahram SavadGenome-Nilou Laboratory, Tehran, Iran. shahram.savad@yahoo.com.
Mohammad-Hossein ModarressiGenome-Nilou Laboratory, Tehran, Iran.
Sarang YounesiPrenatal Screening Department, Nilou Laboratory, Tehran, Iran.
Mahnaz Seifi-AlanCardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran.
Niusha SamadaianGenome-Nilou Laboratory, Tehran, Iran.
Mona MasoomyApplied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Mehdi DianatpourStem Cell and Transgenic Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Shima NorouziPars-Genome Laboratory, Karaj, Iran.
Saloomeh AmidiGenome-Nilou Laboratory, Tehran, Iran.
Amirreza BoroumandDepartment of Neurology, Shams Hospital, Mashhad, Iran.
Mahmoud Reza AshrafiPediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran.
Alireza RonaghDepartment of Pediatrics Neurologists, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran.
Maryam EslamiApplied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Maryam HashemnejadDepartment of Obstetrics and Gynecology, School of Medicine, Kamali Hospital, Alborz University of Medical Sciences, Karaj, Iran.
Shahab NourianDepartment of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran.
Sanaz MohammadiComprehensive Medical Genetics Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Mohammad Mahdi Taheri AminPrenatal Screening Department, Nilou Laboratory, Tehran, Iran.
Morteza HeidariPediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran.
Mahin Seifi-AlanCardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran.
Hossein Shojaaldini ArdakaniDepartment of Medical, Faculty of Medical Sciences, Alborz University of Medical Sciences, Karaj, Iran.
Fatemeh AghamahdiDepartment of Pediatrics, Alborz University of Medical Sciences, Karaj, Iran.
Sheyda KhalilianDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Soudeh Ghafouri-FardDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Exome SequencingGenes, Neurofibromatosis 1Neurofibromatosis 1Neurofibromin 1AdolescentAdultChildChild, PreschoolDNA Mutational AnalysisFemaleHumansIranMaleMutationPedigreePoint MutationNeurofibromin 1NF1 protein, humanIranMutationNF1

Identifiers

PMID38954284

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