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A Comprehensive Overview of NF1 Mutations in Iranian Patients

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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.

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Data Availability

The datasets generated and/or analyzed during the current study are available in the Clinvar repository (https://www.ncbi.nlm.nih.gov/clinvar/?term=nf1%5Bgene%5D&redir=gene).

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Acknowledgements

We appreciate the efforts of all Nilou Lab staff that assisted in this study.

Funding

Not applicable.

Author information

Authors and Affiliations

  1. Genome-Nilou Laboratory, Tehran, Iran

    Shahram Savad, Mohammad-Hossein Modarressi, Niusha Samadaian & Saloomeh Amidi

  2. Prenatal Screening Department, Nilou Laboratory, Tehran, Iran

    Sarang Younesi & Mohammad Mahdi Taheri Amin

  3. Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran

    Mahnaz Seifi-Alan & Mahin Seifi-Alan

  4. Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran

    Mona Masoomy & Maryam Eslami

  5. Stem Cell and Transgenic Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

    Mehdi Dianatpour

  6. Department of Human Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

    Mehdi Dianatpour

  7. Pars-Genome Laboratory, Karaj, Iran

    Shima Norouzi

  8. Department of Neurology, Shams Hospital, Mashhad, Iran

    Amirreza Boroumand

  9. Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran

    Mahmoud Reza Ashrafi & Morteza Heidari

  10. Department of Pediatrics Neurologists, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran

    Alireza Ronagh

  11. Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran

    Maryam Eslami

  12. Department of Obstetrics and Gynecology, School of Medicine, Kamali Hospital, Alborz University of Medical Sciences, Karaj, Iran

    Maryam Hashemnejad

  13. Department of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran

    Shahab Nourian

  14. Comprehensive Medical Genetics Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

    Sanaz Mohammadi

  15. Department of Medical, Faculty of Medical Sciences, Alborz University of Medical Sciences, Karaj, Iran

    Hossein Shojaaldini Ardakani

  16. Department of Pediatrics, Alborz University of Medical Sciences, Karaj, Iran

    Fatemeh Aghamahdi

  17. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Sheyda Khalilian & Soudeh Ghafouri-Fard

Authors
  1. Shahram Savad
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  2. Mohammad-Hossein Modarressi
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Contributions

SS, SY, MHM, and MD designed and supervised the study. SGF and SK wrote the draft and revised it. MS and NS analyzed the data. SN, SA, MRA, AR, MTA, HSA, FA, SN, MM, ME, SM, AB, MS-A, and MH collected the data and performed the experiment. All the authors read and approved the submitted version.

Corresponding authors

Correspondence to Shahram Savad or Soudeh Ghafouri-Fard.

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Informed consent has been obtained from all patients. Ethical approval for this study has been obtained from the Ethical Committee of Nilou Lab. All methods were carried out in accordance with relevant guidelines and regulations.

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Savad, S., Modarressi, MH., Younesi, S. et al. A Comprehensive Overview of NF1 Mutations in Iranian Patients. Neuromol Med 26, 28 (2024). https://doi.org/10.1007/s12017-024-08790-5

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