Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

Abstract Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11 years to highlight gene involvement and mutational patterns. Patients underwent gene panel sequencing (GPS), whole exome sequencing (WES), or MLPA for PMP22 in cases with suspected Charcot-Marie-Tooth disease type 1 A (CMT1A). The diagnostic yield of GPS/WES was 46%. Dystrophies were the most prevalent, followed by neuropathies and myopathies. The key implicated genes were CAPN3 and DMD for dystrophies; GDAP1 and MME for neuropathies; GNE and ETFDH for myopathies. The most common phenotype group was dystrophies among both individuals with childhood-onset and adulthood-onset, but the most frequent mutated gene was CAPN3 in children and DYSF in adults. Identified variants include 761 (97%) single nucleotide variants (SNVs) and 24 (3%) copy number variations (CNVs). Notably, 26% of SNVs were novel. Among individuals tested with MLPA, 28% had confirmed PMP22 gene deletions or duplications, with 73% being duplications linked to CMT1A. This large-scale analysis provides insight into the genetic landscape of NMDs in Iran. Understanding gene distribution and mutation types can improve diagnosis and inform management strategies for affected individuals.

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Publication Details

Journal
Scientific Reports
Published
2025-11-28
DOI
https://doi.org/10.1038/s41598-025-26836-x
Primary Topic
Hereditary Neurological Disorders
Type
article
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article

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

Seyed Mehrdad Kassaee, Parishad Saei, Fatemeh Fatehi, Ariana Kariminejad et al.
Scientific Reports
Hereditary Neurological Disorders
article

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

Seyed Mehrdad Kassaee, Parishad Saei, Fatemeh Fatehi, Ariana Kariminejad, Hilda Yazdan, Zhila Ghaderi, Zohreh Elahi, Mahsa Fadaee, Gholamreza Zamani, Mahtab Ramezani, Shahriar Nafissi, K Kahrizi, Bahram Haghi-Ashtiani, Ayda Abolhassani, Maryam Azad, Siamak Abdi, Mehri Ashki, Parvaneh Karimzadeh, Farzad Fatehi, Ali Asghar Okhovat, MohammadKazem Bakhshandeh, Maryam Beheshtian, Shima Dehdahsi, Fariba Afroozan, Raheleh Vazehan, Hossein Najmabadi, Farshid Parvini, Fariba Zemorshidi, Fatemeh Ahangari, Payman Jamali, Afshin Fayyazi, Elham Parsimehr, Khadijeh Noudehi, Shima Zamanian Najafabadi, Ali Khanbazi, Masoumeh Akbari Kelishomi, Mahmoud Reza Ashrafi, Payam Sarraf, Houman Salimipour, Maryam Mozaffarpour Nouri, Negar Molaei, Parnian Alagha
article en

Abstract

Abstract Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11 years to highlight gene involvement and mutational patterns. Patients underwent gene panel sequencing (GPS), whole exome sequencing (WES), or MLPA for PMP22 in cases with suspected Charcot-Marie-Tooth disease type 1 A (CMT1A). The diagnostic yield of GPS/WES was 46%. Dystrophies were the most prevalent, followed by neuropathies and myopathies. The key implicated genes were CAPN3 and DMD for dystrophies; GDAP1 and MME for neuropathies; GNE and ETFDH for myopathies. The most common phenotype group was dystrophies among both individuals with childhood-onset and adulthood-onset, but the most frequent mutated gene was CAPN3 in children and DYSF in adults. Identified variants include 761 (97%) single nucleotide variants (SNVs) and 24 (3%) copy number variations (CNVs). Notably, 26% of SNVs were novel. Among individuals tested with MLPA, 28% had confirmed PMP22 gene deletions or duplications, with 73% being duplications linked to CMT1A. This large-scale analysis provides insight into the genetic landscape of NMDs in Iran. Understanding gene distribution and mutation types can improve diagnosis and inform management strategies for affected individuals.

Scientific ReportsVol. 15(1)
Hamedan University of Medical Sciences (IR), Iran University of Medical Sciences (IR), Imam Khomeini Hospital (IR), Islamic Azad University of Hamedan (IR), Firoozgar General Hospital (IR), Hamedan University of Technology (IR), Shariati Hospital (IR), Isfahan Fertility and Infertility Center (IR), Children's Medical Center (IR), University of Social Welfare and Rehabilitation Sciences (IR), Bushehr University of Medical Sciences (IR), Shahid Beheshti University of Medical Sciences (IR), Tehran University of Medical Sciences (IR), Semnan University (IR)
Openalex Percentile: Top 60%
Hereditary Neurological Disorders
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