Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51

• Type: Article in International Scientific Journal
• Date: 2010

Authors

Rosario Santos (Author) Other; Jorge Oliveira (Author) Other; Emilia Vieira (Author) Other; Teresa Coelho (Author) Other; Antonio Leite Carneiro (Author) Other; Teresinha Evangelista (Author) Other; Cristina Dias (Author) Other; Ana Fortuna (Author) Other; Argemiro Geraldo (Author) Other; Luis Negrao (Author) Other; Antonio Guimaraes (Author) Other; Elsa Bronze da Rocha (Author) FFUP

Journal

Title: Journal of Human Genetics

Vol. 55 No. 8

Pages: 546-549

ISSN: 1434-5161

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 8 Citations

Scopus - 8 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-003-4E9

DOI: 10.1038/jhg.2010.60

Abstract (EN): The allelic muscle disorders known as limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from defects in dysferlin-a sarcolemma-associated protein involved in membrane repair. Mutation screening in the dysferlin gene (DYSF) enabled the identification of seven Portuguese patients presenting the variant c.5492G>A, which was observed to promote skipping of exon 49 (p. Gly1802ValfsX17). Several residually expressed products of alternative splicing also involving exons 50 and 51 were detected in the leukocytes and muscle of both patients and normal controls. Quantitative transcript analysis confirmed these results and revealed that Delta 49/Delta 50 transcripts were predominant in blood. Although the patients were apparently unrelated, the c.5492G>A mutation was found in linkage disequilibrium with a particularly rare haplotype in the population, corroborating the hypothesis of a common origin. Despite the presence of the same mutation on the same haplotype background, onset of the disease was heterogeneous, with either proximal or distal muscle involvement. Journal of Human Genetics (2010) 55, 546-549; doi:10.1038/jhg.2010.60; published online 10 June 2010

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4