Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2482
Título: LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patients
Autor: Oliveira, J
Santos, R
Soares-Silva, I
Jorge, P
Vieira, E
Oliveira, ME
Moreira, A
Coelho, T
Ferreira, JC
Fonseca, MJ
Barbosa, C
Prats, J
Aríztegui, ML
Martins, ML
Moreno, T
Heinimann, K
Barbot, C
Pascual-Pascual, SI
Cabral, A
Fineza, I
Santos, M
Bronze-da-Rocha, E
Palavras-chave: Muscular Dystrophies/congenital
Laminin/genetics
Gene Deletion
Mutation
Polymorphism, Genetic
Adolescent
Child
HDE NEU PED
Data: Dez-2008
Editora: Blackwell Munksgaard
Citação: Clin Genet. 2008 Dec;74(6):502-12
Resumo: Congenital 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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/2482
DOI: 10.1111/j.1399-0004.2008.01068.x
Aparece nas colecções:NEF PED - Artigos

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