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A Comprehensive Overview of Smn and Naip Copy Numbers in Iranian Sma Patients Publisher Pubmed



Savad S1 ; Ashrafi MR2, 3 ; Samadaian N1 ; Heidari M2, 4 ; Modarressi MH5 ; Zamani G4 ; Amidi S1 ; Younesi S6 ; Amin MMT6 ; Saadati P6 ; Ronagh A7 ; Ardakani HS8 ; Eslami S9, 10 ; Ghafourifard S11
Authors
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Authors Affiliations
  1. 1. Genome-Nilou Laboratory, Tehran, Iran
  2. 2. Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Pediatrics Center, Growth and Development Research Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Prenatal Screening Department, Nilou Laboratory, Tehran, Iran
  7. 7. Department of Pediatrics Neurologists, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran
  8. 8. Department of Medical, Faculty of Medical Sciences, Alborz University of Medical Sciences, Karaj, Iran
  9. 9. Department of Medical Biotechnology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran
  10. 10. Dietary Supplements and Probiotic Research Center, Alborz University of Medical Sciences, Karaj, Iran
  11. 11. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Scientific Reports Published:2023


Abstract

Spinal muscular atrophy (SMA) is among the most common autosomal recessive disorders with different incidence rates in different ethnic groups. In the current study, we have determined SMN1, SMN2 and NAIP copy numbers in an Iranian population using MLPA assay. Cases were recruited from Genome-Nilou Laboratory, Tehran, Iran and Pars-Genome Laboratory, Karaj, Iran during 2012–2022. All enrolled cases had a homozygous deletion of exon 7 of SMN1. Moreover, except for 11 cases, all other cases had a homozygous deletion of exon 8 of SMN1. Out of 186 patients, 177 (95.16%) patients showed the same copy numbers of exons 7 and 8 of SMN2 gene. In addition, 53 patients (28.49%) showed 2 copies, 71 (38.17%) showed 3 copies and 53 patients (28.49%) showed 4 copies of SMN2 gene exons 7 and 8. The remaining 9 patients showed different copy numbers of exons 7 and 8 of SMN2 gene. The proportions of SMA patients with different numbers of normal NAIP were 0 copy in 73 patients (39.24%), 1 copy in 59 patients (31.72%), 2 copies in 53 patients (28.49%) and 4 copies in one patient (0.5%). These values are different from values reported in other populations. Integration of the data of the SMN1/2 and NAIP genes showed 17 genotypes. Patients with genotype 0-0-3-3-1 (0 copies of SMN1 (E7,8), 3 copies of SMN2 (E7,8) and 1 copy of NAIP (E5)) were the most common genotype in this study. Patients with 0-0-2-2-0 genotype were more likely to have type I SMA. The results of the current study have practical significance, particularly in the genetic counseling of at-risk families. © 2023, The Author(s).
Related Docs
1. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
2. Comprehensive Copy Number Analysis of Spinal Muscular Atrophy Among the Iranian Population, Scientific Reports (2024)
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