Human Molecular Genetics, Vol 6, 1029-1036, Copyright © 1997 by Oxford University Press
M Tassabehji, K Metcalfe, D Donnai, J Hurst, W Reardon, M Burch and AP Read
We describe the complete exon-intron structure of the human elastin (ELN)
gene located at chromosome 7q11.23. There are 34 exons occupying
approximately 47 kb of genomic DNA. All exons are in-frame, allowing exon
skipping without disrupting the reading frame. Microsatellites are located
in introns 17 and 18. Deletions of all or large parts of the ELN gene have
been previously reported in two patients with supravalvular aortic stenosis
(SVAS), and SVAS is also a frequent feature of Williams syndrome, where
patients are hemizygous for ELN. We list primer pairs for amplifying each
exon, with flanking intron, from genomic DNA to allow detection of point
mutations in the ELN gene. We show that some patients with isolated SVAS
have point mutations that are predicted to lead to premature chain
termination. Knowledge of the genomic structure will allow more extensive
mutation screening in genomic DNA of patients with SVAS and other
conditions.
ARTICLES
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis
Department of Medical Genetics, St Mary's Hospital, Manchester, UK. m.tassabehji@man.ac.uk
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