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A Comprehensive Overview of Nf1 Mutations in Iranian Patients Publisher Pubmed



Savad S1 ; Modarressi MH1 ; Younesi S2 ; Seifialan M3 ; Samadaian N1 ; Masoomy M4 ; Dianatpour M5, 6 ; Norouzi S7 ; Amidi S1 ; Boroumand A8 ; Ashrafi MR9 ; Ronagh A10 ; Eslami M4, 11 ; Hashemnejad M12 Show All Authors
Authors
  1. Savad S1
  2. Modarressi MH1
  3. Younesi S2
  4. Seifialan M3
  5. Samadaian N1
  6. Masoomy M4
  7. Dianatpour M5, 6
  8. Norouzi S7
  9. Amidi S1
  10. Boroumand A8
  11. Ashrafi MR9
  12. Ronagh A10
  13. Eslami M4, 11
  14. Hashemnejad M12
  15. Nourian S13
  16. Mohammadi S14
  17. Taheri Amin MM2
  18. Heidari M9
  19. Seifialan M3
  20. Shojaaldini Ardakani H15
  21. Aghamahdi F16
  22. Khalilian S17
  23. Ghafourifard S17

Source: NeuroMolecular Medicine Published: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. © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024.
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