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 |
Related Diseases:
References:
1. |
Morris CA et al. (1993) Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.
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2. |
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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3. |
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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4. |
Emanuel BS et al. (1985) Chromosomal localization of the human elastin gene.
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5. |
None (1972) The dominant and recessive forms of cutis laxa.
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6. |
None (1984) Elastin: relation of protein and gene structure to disease.
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7. |
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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8. |
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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9. |
Corbett E et al. (1994) Congenital cutis laxa with a dominant inheritance and early onset emphysema.
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10. |
Curran ME et al. (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.
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11. |
Ewart AK et al. (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.
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12. |
Faury G et al. (2003) Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.
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13. |
Olson TM et al. (1993) Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.
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14. |
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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15. |
Ewart AK et al. (1993) A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
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16. |
Olson TM et al. (1995) A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
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17. |
Li DY et al. (1997) Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
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18. |
Tassabehji M et al. (1997) Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
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19. |
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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20. |
Li DY et al. (1998) Elastin is an essential determinant of arterial morphogenesis.
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21. |
Zhang MC et al. (1999) Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).
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22. |
Fazio MJ et al. (1991) Human elastin gene: new evidence for localization to the long arm of chromosome 7.
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23. |
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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24. |
Ewart AK et al. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
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25. |
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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26. |
Li DY et al. (1998) Novel arterial pathology in mice and humans hemizygous for elastin.
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27. |
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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28. |
Boeckel T et al. (1999) A new mutation in the elastin gene causing supravalvular aortic stenosis.
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29. |
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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30. |
Metcalfe K et al. (2000) Elastin: mutational spectrum in supravalvular aortic stenosis.
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31. |
Urbán Z et al. (2001) Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
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32. |
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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33. |
Koch A et al. (2003) Spectrum of arterial obstructions caused by one elastin gene point mutation.
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34. |
None (1963) Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.
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35. |
Urban Z et al. (2005) Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.
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36. |
Szabo Z et al. (2006) Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.
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37. |
Lee SH et al. (2007) Antielastin autoimmunity in tobacco smoking-induced emphysema.
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38. |
Uitto J et al. (1991) Molecular biology and pathology of human elastin.
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39. |
Graul-Neumann LM et al. (2008) Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.
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40. |
Tromp G et al. (1991) A to G polymorphism in ELN gene.
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41. |
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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42. |
Sephel GC et al. (1989) Heterogeneity of elastin expression in cutis laxa fibroblast strains.
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43. |
NCBI article
NCBI 2006
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44. |
OMIM.ORG article
Omim 130160
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45. |
Orphanet article
Orphanet ID 121517
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46. |
Wikipedia article
Wikipedia EN (Elastin)
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Update: Aug. 14, 2020