Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy

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HASHEMI GORJI FEYZOLLAH; YASSAEE VAHID REZA; DASHTI PARISA; MIRYOUNESI MOHAMMAD

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Journal Paper

Paper Information

Journal: Iranian Biomedical Journal Year:2018 | Volume:22 | Issue:6 Page(s): 408-414

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Title

Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy

Author(s)

HASHEMI GORJI FEYZOLLAH | YASSAEE VAHID REZA | DASHTI PARISA | MIRYOUNESI MOHAMMAD | Issue Writer Certificate

Keywords

Creatine Kinase

Genetic counseling

Mutation

Reverse transcriptase polymerase chain reaction

Abstract

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 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. Conclusion: This study expands the Mutation spectrum of LAMA2 and assists in the diagnosis, Genetic counseling, and prenatal diagnosis of the affected families.

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APA: Copy

HASHEMI GORJI, FEYZOLLAH, YASSAEE, VAHID REZA, DASHTI, PARISA, & MIRYOUNESI, MOHAMMAD. (2018). Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy. IRANIAN BIOMEDICAL JOURNAL, 22(6), 408-414. SID. https://sid.ir/paper/756421/en

Vancouver: Copy

HASHEMI GORJI FEYZOLLAH, YASSAEE VAHID REZA, DASHTI PARISA, MIRYOUNESI MOHAMMAD. Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy. IRANIAN BIOMEDICAL JOURNAL[Internet]. 2018;22(6):408-414. Available from: https://sid.ir/paper/756421/en

IEEE: Copy

FEYZOLLAH HASHEMI GORJI, VAHID REZA YASSAEE, PARISA DASHTI, and MOHAMMAD MIRYOUNESI, “Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy,” IRANIAN BIOMEDICAL JOURNAL, vol. 22, no. 6, pp. 408–414, 2018, [Online]. Available: https://sid.ir/paper/756421/en

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