Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.

Abstract excerpt

Marfan syndrome is caused by mutations in fibrillin-1, a large gene spanning approximately 200 kb of genomic DNA on chromosome 15q21. So far, more than 600 different mutations have been identified, accounting for 60-90% of all Marfan syndrome cases, the vast majority being single nucleotide exchanges as well as small deletions and insertions. Only four major rearrangements have been described in the literature so...

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