The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

@article{Curran1993TheEG,
  title={The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis},
  author={Mark E. Curran and Donald L Atkinson and Amanda K. Ewart and Colleen A. Morris and M. Leppert and Mark T. Brookline Keating},
  journal={Cell},
  year={1993},
  volume={73},
  pages={159-168}
}
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.
TLDR
DNA sequence analysis and pulsed-field, PCR, and Southern analyses indicate that mutations in the elastin gene cause SVAS and suggest thatElastin exons 28-36 may encode critical domains for vascular development.
Elastin and vascular disease.
  • M. Keating
  • Medicine, Biology
    Trends in cardiovascular medicine
  • 1994
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.
TLDR
This work reports on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVas is the result of a mutation of elastin at 7q 11.23 region.
Elastin: mutational spectrum in supravalvular aortic stenosis
TLDR
The spectrum of mutations occurring in familial and sporadic SVAS is described and the mutational mechanisms involved in SVAS are attempted to define, to identify the four missense mutations identified.
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
TLDR
The data demonstrate that point mutations of ELN cause autosomal dominant SVAS, and ELN point mutations co-segregate with the disease in four familial cases and are associated with SVAS in three sporadic cases.
Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.
TLDR
It is confirmed that functional haploinsufficiency of elastin is responsible for the pathogenesis associated with isolated SVAS across different ethnic backgrounds.
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene
TLDR
Despite considerable variability in the molecular nature of mutations responsible for SVAS, the unifying mechanism appears to be the generation of null alleles by NMD leading to elastin haploinsufficiency.
A new mutation in the elastin gene causing supravalvular aortic stenosis.
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
TLDR
This study demonstrates the expression of mutant alleles of the elastin gene in patients with isolated SVAS, and indicates that the mutations found in the two apparently non-overlapping kindreds are identical by descent.
Elastin Mutation and Cardiac Disease
TLDR
This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease.
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References

SHOWING 1-10 OF 35 REFERENCES
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
  • A. Ewart, C. Morris, M. Keating
  • Medicine, Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1993
TLDR
Findings indicate that a gene for supravalvular aortic stenosis is located in the same chromosomal subunit as elastin, which becomes a candidate for the disease gene.
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
TLDR
Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease.
SUPRA-AORTIC STENOSIS ASSOCIATED WITH MARFAN'S SYNDROME
  • A. Burry
  • Medicine
    British heart journal
  • 1958
TLDR
The following case is of interest in that Marfan's syndrome was accompanied by aortic stenosis of a type apparently not previously reported.
Supravalvular aortic stenosis. Clinical and pathologic observations in six patients.
TLDR
Although hemodynamics during intrauterine development may predispose to localization of the stenosis to the supra-aortic valvar region, the cause for the mural dysplasia remains uncertain.
Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region.
Genomic clones encompassing the entire human elastin gene, including 11 kilobases flanking the ATG translation initiation codon, have been obtained and characterized by restriction enzyme analysis
FAMILIAL SUPRAVALVULAR AORTIC STENOSIS.
TLDR
The material and discussion presented below is limited to the true stenosis, or coarctation, of the supravalvular aorta under this classification, and is concerned with the familial incidence of this malformation.
Human elastin gene: new evidence for localization to the long arm of chromosome 7.
TLDR
The results indicate that the human elastin gene is located in the proximal region of the long arm of chromosome 7, which is useful in establishing genetic linkage between inheritance of an allele with a mutated elastIn gene and a heritable disorder.
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.
TLDR
It is indicated that mutations in the gene that encodes fibrillin are responsible for the Marfan syndrome in the majority of individuals and that a variety of mutations can produce the phenotype associated with the syndrome.
Analysis of the 3' region of the sheep elastin gene.
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