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Iranian Biomedical Journal، جلد ۲۲، شماره ۶، صفحات ۴۰۸-۴۱۴
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
چکیده انگلیسی مقاله Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 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. Methods: Peripheral blood samples were collected from three unrelated patients and their families after obtaining their informed written consents. Genomic DNA was extracted and sequenced using next-generation sequencing, followed by Sanger confirmation. Results: 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 LAMA2 gene. Reverse transcriptase-PCR analysis showed that a new intronic variant, c.7452-1G>A, produced aberrant splicing pattern in the patient. Conclusions: This study expands the mutation spectrum of LAMA2 and assists in the diagnosis, genetic counseling, and prenatal diagnosis of the affected families.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله | Feyzollah Hashemi-Gorji
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Vahid Reza Yassaee
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Parisa Dashti
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran


| Mohammad Miryounesi
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-728&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-931975.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
نوع مقاله منتشر شده مقاله کامل
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