Scholarlink

<p>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 <i>PMP22</i> in cases with suspected Charcot-Marie-Tooth disease type 1&#xa0;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 <i>CAPN3</i> and <i>DMD</i> for dystrophies; <i>GDAP1</i> and <i>MME</i> for neuropathies; <i>GNE</i> and <i>ETFDH</i> 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 <i>CAPN3</i> in children and <i>DYSF</i> 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 <i>PMP22</i> 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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年11月28日

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

摘要

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.