en Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کامل Full Length/Original Article <strong>Background:</strong> Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the <em>LAMA2</em> gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging before the age of six months. <strong>Methods:</strong> Peripheral blood samples were collected from three unrelated patients and their families after obtaining informed written consents. Genomic DNA was extracted and sequenced using next-generation sequencing, followed by Sanger confirmation. <strong>Results:</strong> Sequencing results revealed a known missense mutation, c.8665G>A, and two novel heterozygous sequencing variants affecting splicing, c.397-4_c.478del and c.7452-1G>A, in the <em>LAMA2</em> gene. Reverse transcriptase-PCR analysis showed that a new intronic variant, c.7452-1G>A, produced aberrant splicing pattern in the patient. <strong>Conclusions</strong>: This study expands the mutation spectrum of <em>LAMA2</em> and assists in the diagnosis, genetic counseling, and prenatal diagnosis of the affected families. Creatine Kinase, Genetic counseling, Mutation, Reverse transcriptase polymerase chain reaction 408 414 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-728&slc_lang=en&sid=1 Feyzollah Hashemi-Gorji 0000-0002-9996-9406 Print view Also known asHashe No Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Vahid Reza Yassaee 0000-0002-1879-3905 No Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Parisa Dashti 0000-0000-0000-0000 No Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohammad Miryounesi 0000-0003-4705-3794 Yes Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran