Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
-
10.61186/ibj
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8888
-
en
jalali
1397
8
1
gregorian
2018
11
1
22
6
online
1
fulltext
en
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
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
100319475328460055067
100319475328460055067
No
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Vahid Reza
Yassaee
100319475328460055068
100319475328460055068
No
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Parisa
Dashti
100319475328460055069
100319475328460055069
No
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
Mohammad
Miryounesi
100319475328460055070
100319475328460055070
Yes
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran