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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

Oliveira, J. and Santos, R. and Soares-Silva, I. and Jorge, P. and Vieira, E. and Oliveira, M. E. and Moreira, A. and Coelho, T. and Ferreira, J. C. and Fonseca, M. J. and Barbosa, C. and Prats, J. and Aríztegui, M. L. and Martins, M. L. and Moreno, T. and Heinimann, K. and Barbot, C. and Pascual-Pascual, S. I. and Cabral, A. and Fineza, I. and Santos, M. and Bronze-da-Rocha, E.. (2008) LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clinical genetics, Vol. 74, H. 6. S. 502-512.

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Official URL: http://edoc.unibas.ch/dok/A6005515

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Abstract

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.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
UniBasel Contributors:Heinimann, Karl
Item Type:Article, refereed
Bibsysno:Link to catalogue
Publisher:Blackwell
ISSN:0009-9163
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:25 Apr 2014 08:00
Deposited On:25 Apr 2014 08:00

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