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Comprehensive Copy Number Analysis of Spinal Muscular Atrophy Among the Iranian Population Publisher Pubmed



Khanbazi A1, 2 ; Beheshtian M1, 2 ; Azad M1 ; Akbari Kelishomi M1 ; Afroozan F1 ; Fatehi F1 ; Noudehi K1 ; Zamanian Najafabadi S1 ; Omrani M3 ; Habibi H4 ; Taghdiri M5 ; Abdi Rad I6 ; Nafissi S7, 8 ; Jankhah A9 Show All Authors
Authors
  1. Khanbazi A1, 2
  2. Beheshtian M1, 2
  3. Azad M1
  4. Akbari Kelishomi M1
  5. Afroozan F1
  6. Fatehi F1
  7. Noudehi K1
  8. Zamanian Najafabadi S1
  9. Omrani M3
  10. Habibi H4
  11. Taghdiri M5
  12. Abdi Rad I6
  13. Nafissi S7, 8
  14. Jankhah A9
  15. Yazdan H1
  16. Daneshmand P10
  17. Saberi SH11
  18. Kahrizi K2
  19. Kariminejad A1
  20. Najmabadi H1, 2
Show Affiliations
Authors Affiliations
  1. 1. Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran
  2. 2. Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran
  3. 3. Urology and Nephrology Research Center (UNRC), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Dr Habibi genetic counseling center, Hamedan, Iran
  5. 5. Shiraz Genetic Counseling Center, Welfare Office, Shiraz, Iran
  6. 6. Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran
  7. 7. Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
  9. 9. Shiraz Genetic Counseling Center, Shiraz, Iran
  10. 10. Daneshmand Medical Genetics Center, Mazandaran, Amol, Iran
  11. 11. Medical-Genetic Counseling Center, Alborz Welfare Organization, Karaj, Iran

Source: Scientific Reports Published:2024


Abstract

Copy number variations in the SMN1 gene on chromosome 5 are the primary cause of Spinal Muscular Atrophy (SMA) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord. To obtain a comprehensive molecular understanding of the SMA, including carriers, silent carriers, and patients in the Iranian population, we analyzed data from 5224 individuals referred to Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran, between 2006 and 2023 using MLPA and quantitative RT-PCR methods. The carrier frequency of SMA was estimated to be 5.55%. Furthermore, 3.06% of SMA parents (n = 24) had two copies of the SMN1 gene. Among 725 patients, those with an earlier onset of SMA were more likely to have two copies of the SMN2 gene (46.45%) and no copies of the NAIP gene (49.36%). Among the 654 fetal samples screened for SMA, 22.33% were found to be affected, while 3.46% of their parents tested normal. These findings are valuable for genetic counseling, carrier screening, and prenatal diagnosis of SMA in Iran. Furthermore, they underscore the importance of CNV analysis of SMN1, SMN2, and NAIP genes for accurate diagnosis and prognosis of SMA. © The Author(s) 2024.