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LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patients

2008-12Journal article Open access
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dc.contributor.authorOliveira, J
dc.contributor.authorSantos, R
dc.contributor.authorSoares-Silva, I
dc.contributor.authorJorge, P
dc.contributor.authorVieira, E
dc.contributor.authorOliveira, ME
dc.contributor.authorMoreira, A
dc.contributor.authorCoelho, T
dc.contributor.authorFerreira, JC
dc.contributor.authorFonseca, MJ
dc.contributor.authorBarbosa, C
dc.contributor.authorPrats, J
dc.contributor.authorAríztegui, ML
dc.contributor.authorMartins, ML
dc.contributor.authorMoreno, T
dc.contributor.authorHeinimann, K
dc.contributor.authorBarbot, C
dc.contributor.authorPascual-Pascual, SI
dc.contributor.authorCabral, A
dc.contributor.authorFineza, I
dc.contributor.authorSantos, M
dc.contributor.authorBronze-da-Rocha, E
dc.date.accessioned2016-05-11T11:36:59Z
dc.date.available2016-05-11T11:36:59Z
dc.date.issued2008-12
dc.description.abstractCongenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination of full genomic sequencing and complementary DNA analysis led to the particularly high mutation detection rate of 96% (50/52 disease alleles). Besides 22 undocumented polymorphisms, 18 different mutations were identified in the course of this work, 14 of which were novel. In particular, we describe the first fully characterized gross deletion in the LAMA2 gene, encompassing exon 56 (c.7750-1713_7899-2153del), detected in 31% of the patients. The only two missense mutations detected were found in heterozygosity with nonsense or truncating mutations in the two patients with the milder clinical presentation and a partial reduction in muscle laminin-alpha2. Our results corroborate the previous few genotype/phenotype correlations in MDC1A and illustrate the importance of screening for gross rearrangements in the LAMA2 gene, which may be underestimated in the literature.pt_PT
dc.identifier.citationClin Genet. 2008 Dec;74(6):502-12pt_PT
dc.identifier.doi10.1111/j.1399-0004.2008.01068.xpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2482
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBlackwell Munksgaardpt_PT
dc.subjectMuscular Dystrophies/congenitalpt_PT
dc.subjectLaminin/geneticspt_PT
dc.subjectGene Deletionpt_PT
dc.subjectMutationpt_PT
dc.subjectPolymorphism, Geneticpt_PT
dc.subjectAdolescentpt_PT
dc.subjectChildpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.titleLAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage512pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage502pt_PT
oaire.citation.volume74pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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