Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A

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dc.authoridGoleij, Pouya/0000-0002-2213-497X
dc.authoridBaradaran, Behzad/0000-0002-8642-6795
dc.authorscopusid57511601000
dc.authorscopusid57217533849
dc.authorscopusid57221716042
dc.authorscopusid57516155900
dc.authorscopusid57217420733
dc.authorscopusid57258990500
dc.authorscopusid57226459614
dc.authorwosidGoleij, Pouya/AAH-1048-2020
dc.authorwosidBaradaran, Behzad/AAQ-5177-2020
dc.contributor.authorKhorrami, Afshin
dc.contributor.authorGoleij, Pouya
dc.contributor.authorKaramad, Vahidreza
dc.contributor.authorTaheri, Elham
dc.contributor.authorShadman, Behrouz
dc.contributor.authorEmami, Parisa
dc.contributor.authorJahangirzadeh, Gholamreza
dc.date.accessioned2023-01-12T19:49:48Z
dc.date.available2023-01-12T19:49:48Z
dc.date.issued2021
dc.departmentN/A/Departmenten_US
dc.description.abstractBackground Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin alpha 2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense mutations in LAMA2 gene in compound heterozygous status in an Iranian patient with MDC1A using whole-exome sequencing (WES). Methods In the present study, we evaluated genetic alterations in an Iranian 35-month-old boy with MDC1A and his healthy family using WES method. The identified mutations further confirmed by Sanger sequencing method. Finally, in silico analysis was conducted to further evaluation of molecular function of the identified genetic variants. Results We identified two potentially pathogenic missense mutations in compound heterozygous state (c.7681G>A p.Gly2561Ser and c.4840A>G p.Asn1614Asp) in LAMA2 gene as contributing to the MDC1A phenotype. The healthy parents of our proband are single heterozygous for identified mutations. These variants were found to be pathogenic by in silico analysis. Conclusions In general, we successfully identified LAMA2 gene mutations in an Iranian patient with MDC1A using WES. The identified mutations in LAMA2 gene can be useful in genetic counseling, prenatal diagnosis, and predicting prognosis of MDC1A.en_US
dc.identifier.doi10.1002/jcla.23930
dc.identifier.issn0887-8013
dc.identifier.issn1098-2825
dc.identifier.issue11en_US
dc.identifier.pmid34528292en_US
dc.identifier.scopus2-s2.0-85114909286en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1002/jcla.23930
dc.identifier.urihttps://hdl.handle.net/11454/75921
dc.identifier.volume35en_US
dc.identifier.wosWOS:000696152400001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofJournal of Clinical Laboratory Analysisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectcongenital muscular dystrophyen_US
dc.subjectLAMA2 geneen_US
dc.subjectmutationen_US
dc.subjectwhole-exome sequencingen_US
dc.titleIdentification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1Aen_US
dc.typeArticleen_US

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