Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population

Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population Publisher

Savad S ; Modarresi MH ; Seifialan M ; Samadaian N ; Amidi S ; Masoomy M ; Norouzi S ; Seifialan S ; Ronagh A ; Nourian S ; Younesi S ; Amin MMT ; Eslami M ; Iranpour M Show All Authors

Savad S
Modarresi MH
Seifialan M
Samadaian N
Amidi S
Masoomy M
Norouzi S
Seifialan S
Ronagh A
Nourian S
Younesi S
Amin MMT
Eslami M
Iranpour M
Mohammadi A
Parastooei B
Heydari M
Boroumand A
Ashrafi M
Jahedi D
Hosseininezhad Z
Farmanbar A
Peyravifard N
Ardakani HS
Montazerlotfelahi H
Rasoulinezhad M
Mirchi B
Heidari M
Soori M
Ghafourifard S

Source: Gene Reports Published:2025

Abstract

Copy number variation in the SMN1 gene is the main cause of Spinal Muscular Atrophy (SMA). We assessed the carrier frequency of SMA, which is the second most common genetic disease, in the Iranian population. This paper demonstrates the largest population including unrelated subjects and also provides an evaluation with variant analysis of SMN1 in cis. To acquire inclusive molecular data about the carrier frequency of SMA and the frequency of SMN1 polymorphisms g.27134T>G (c.*3+80T>G) among Iranian population, we analyzed data from 2157 individuals referred to the Pars-Genome and Genome-Nilou laboratories for SMA carrier detection between 2018 and 2024. A total of 2003 unrelated non-consanguineous healthy individuals were selected from 2157 individuals underwent MLPA using kit P460 or P021. We also assessed available whole exome sequencing (WES) data of another cohort of patients for the presence of the c.*3+80T>G variant in the SMN1. The results indicated that 3.5 % (n = 70) were carriers of the disease, possessing only one copy of the SMN1 gene. Totally, 89 % (n = 1783) of all participants exhibited two copies of SMN1. Among 526 cases underwent assessment by P460 kit and 2211 cases underwent WES, c.*3+80T>G variant was detected in 28 (1 %) cases. This data can be used in the genetic counseling, carrier screening, and prenatal diagnosis of SMA in Iran. © 2025 Elsevier B.V., All rights reserved.

2. Comprehensive Copy Number Analysis of Spinal Muscular Atrophy Among the Iranian Population, Scientific Reports (2024)

Style	Citing Format
MLA	Savad S, et al.. "Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population." Gene Reports, vol. 41, no. , 2025, pp. -.
APA	Savad S, Modarresi MH, Seifialan M, Samadaian N, Amidi S, Masoomy M, Norouzi S, Seifialan S, Ronagh A, Nourian S, Younesi S, Amin MMT, Eslami M, Iranpour M, Mohammadi A, Parastooei B, Heydari M, Boroumand A, Ashrafi M, ... Ghafourifard S (2025). Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population. Gene Reports, 41(), -.
Chicago	Savad S, Modarresi MH, Seifialan M, Samadaian N, Amidi S, Masoomy M, Norouzi S, et al.. "Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population." Gene Reports 41, no. (2025): -.
Harvard	Savad S et al. (2025) 'Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population', Gene Reports, 41(), pp. -.
Vancouver	Savad S, Modarresi MH, Seifialan M, Samadaian N, Amidi S, Masoomy M, et al.. Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population. Gene Reports. 2025;41():-.
BibTex	@article{ author = {Savad S and Modarresi MH and Seifialan M and Samadaian N and Amidi S and Masoomy M and Norouzi S and Seifialan S and Ronagh A and Nourian S and Younesi S and Amin MMT and Eslami M and Iranpour M and Mohammadi A and Parastooei B and Heydari M and Boroumand A and Ashrafi M and Jahedi D and Hosseininezhad Z and Farmanbar A and Peyravifard N and Ardakani HS and Montazerlotfelahi H and Rasoulinezhad M and Mirchi B and Heidari M and Soori M and Ghafourifard S}, title = {Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population}, journal = {Gene Reports}, volume = {41}, number = {}, pages = {-}, year = {2025} }
RIS	TY - JOUR AU - Savad S AU - Modarresi MH AU - Seifialan M AU - Samadaian N AU - Amidi S AU - Masoomy M AU - Norouzi S AU - Seifialan S AU - Ronagh A AU - Nourian S AU - Younesi S AU - Amin MMT AU - Eslami M AU - Iranpour M AU - Mohammadi A AU - Parastooei B AU - Heydari M AU - Boroumand A AU - Ashrafi M AU - Jahedi D AU - Hosseininezhad Z AU - Farmanbar A AU - Peyravifard N AU - Ardakani HS AU - Montazerlotfelahi H AU - Rasoulinezhad M AU - Mirchi B AU - Heidari M AU - Soori M AU - Ghafourifard S TI - Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population JO - Gene Reports VL - 41 IS - SP - EP - PY - 2025 ER -

Style

Citing Format

MLA

Savad S, et al.. "Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population." Gene Reports, vol. 41, no. , 2025, pp. -.

APA

Savad S, Modarresi MH, Seifialan M, Samadaian N, Amidi S, Masoomy M, Norouzi S, Seifialan S, Ronagh A, Nourian S, Younesi S, Amin MMT, Eslami M, Iranpour M, Mohammadi A, Parastooei B, Heydari M, Boroumand A, Ashrafi M, ... Ghafourifard S (2025). Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population. Gene Reports, 41(), -.

Chicago

Savad S, Modarresi MH, Seifialan M, Samadaian N, Amidi S, Masoomy M, Norouzi S, et al.. "Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population." Gene Reports 41, no. (2025): -.

Harvard

Savad S et al. (2025) 'Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population', Gene Reports, 41(), pp. -.

Vancouver

Savad S, Modarresi MH, Seifialan M, Samadaian N, Amidi S, Masoomy M, et al.. Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population. Gene Reports. 2025;41():-.

BibTex

@article{ author = {Savad S and Modarresi MH and Seifialan M and Samadaian N and Amidi S and Masoomy M and Norouzi S and Seifialan S and Ronagh A and Nourian S and Younesi S and Amin MMT and Eslami M and Iranpour M and Mohammadi A and Parastooei B and Heydari M and Boroumand A and Ashrafi M and Jahedi D and Hosseininezhad Z and Farmanbar A and Peyravifard N and Ardakani HS and Montazerlotfelahi H and Rasoulinezhad M and Mirchi B and Heidari M and Soori M and Ghafourifard S}, title = {Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population}, journal = {Gene Reports}, volume = {41}, number = {}, pages = {-}, year = {2025} }

RIS

TY - JOUR
AU - Savad S
AU - Modarresi MH
AU - Seifialan M
AU - Samadaian N
AU - Amidi S
AU - Masoomy M
AU - Norouzi S
AU - Seifialan S
AU - Ronagh A
AU - Nourian S
AU - Younesi S
AU - Amin MMT
AU - Eslami M
AU - Iranpour M
AU - Mohammadi A
AU - Parastooei B
AU - Heydari M
AU - Boroumand A
AU - Ashrafi M
AU - Jahedi D
AU - Hosseininezhad Z
AU - Farmanbar A
AU - Peyravifard N
AU - Ardakani HS
AU - Montazerlotfelahi H
AU - Rasoulinezhad M
AU - Mirchi B
AU - Heidari M
AU - Soori M
AU - Ghafourifard S
TI - Carrier Frequency of Spinal Muscular Atrophy: A Large-Scale Study in Iranian Population
JO - Gene Reports
VL - 41
IS -
SP -
EP -
PY - 2025
ER -

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Abstract