Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Elastin

The ELN gene encodes elastin a major component of elastic fibers. In Williams-Beuren syndrome the whole gene along with about 28 other genes is hemizygously deleted.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Williams-Beuren syndrome
ELN

References:

1.

Urbán Z et al. (1999) Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.

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2.

Boeckel T et al. (1999) A new mutation in the elastin gene causing supravalvular aortic stenosis.

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3.

Urbán Z et al. (2000) Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

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4.

Metcalfe K et al. (2000) Elastin: mutational spectrum in supravalvular aortic stenosis.

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5.

Urbán Z et al. (2001) Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.

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6.

Urbán Z et al. (2002) Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

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7.

Duba HC et al. (2002) The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

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8.

Koch A et al. (2003) Spectrum of arterial obstructions caused by one elastin gene point mutation.

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9.

REIDY JP et al. (1963) Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.

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10.

Faury G et al. (2003) Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.

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11.

Urban Z et al. (2005) Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

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12.

Szabo Z et al. (2006) Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

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13.

Lee SH et al. (2007) Antielastin autoimmunity in tobacco smoking-induced emphysema.

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14.

Uitto J et al. (1991) Molecular biology and pathology of human elastin.

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15.

Graul-Neumann LM et al. (2008) Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

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16.

Tromp G et al. (1991) A to G polymorphism in ELN gene.

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17.

Micale L et al. (2010) Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

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18.

Fazio MJ et al. (1991) Human elastin gene: new evidence for localization to the long arm of chromosome 7.

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19.

Sephel GC et al. (1989) Heterogeneity of elastin expression in cutis laxa fibroblast strains.

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20.

Indik Z et al. (1987) Structure of the 3' region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences.

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21.

Indik Z et al. (1987) Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.

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22.

Emanuel BS et al. (1985) Chromosomal localization of the human elastin gene.

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23.

Beighton P et al. (1972) The dominant and recessive forms of cutis laxa.

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24.

Rosenbloom J et al. (1984) Elastin: relation of protein and gene structure to disease.

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25.

Ewart AK et al. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

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26.

Wydner KS et al. (1994) Use of an intron polymorphism to localize the tropoelastin gene to mouse chromosome 5 in a region of linkage conservation with human chromosome 7.

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27.

Zhang MC et al. (1995) Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain.

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28.

Corbett E et al. (1994) Congenital cutis laxa with a dominant inheritance and early onset emphysema.

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29.

Curran ME et al. (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.

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30.

Ewart AK et al. (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

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31.

Morris CA et al. (1993) Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.

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32.

Olson TM et al. (1993) Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.

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33.

Foster K et al. (1993) Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

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34.

Ewart AK et al. (1993) A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

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35.

Olson TM et al. (1995) A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

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36.

Pérez Jurado LA et al. (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

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37.

Li DY et al. (1997) Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

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38.

Tassabehji M et al. (1997) Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

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39.

Tassabehji M et al. (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

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40.

Li DY et al. (1998) Elastin is an essential determinant of arterial morphogenesis.

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41.

Li DY et al. (1998) Novel arterial pathology in mice and humans hemizygous for elastin.

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42.

Zhang MC et al. (1999) Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

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Update: Sept. 26, 2018