An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Human Molecular Genetics

Volumn 7, Issue 6, 1998, Pages 1021-1028

  Tassabehji, Mayada ^a   Metcalfe, Kay ^a   Hurst, Jane ^b   Ashcroft, Gillian S ^c   Kielty, Cay ^c   Wilmot, Carrie ^c   Donnai, Dian ^a   Read, Andrew P ^a   Jones, Carolyn J P ^d  

^a ST MARY S HOSPITAL   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; MESSENGER RNA; MUTANT PROTEIN; TROPOELASTIN;

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; CUTIS LAXA; DERMIS; ELASTIC FIBER; ELECTRON MICROSCOPY; EXON; FEMALE; FIBER; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECRETION; PROTEIN SYNTHESIS;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CUTIS LAXA; DNA; DNA MUTATIONAL ANALYSIS; ELASTIC TISSUE; ELASTICITY; ELASTIN; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; PROTEIN CONFORMATION; SKIN; TROPOELASTIN;

EID: 0031833314     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.6.1021     Document Type: Article

References (34)

1. Indik, Z., Yeh, H., Ornstein-Goklstein. N., Sheppard, P., Anderson, N., Rosenbloom, J.C., Peltonen, L. and Rosenbloom, J. (1987) Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc. Natl Acad. Sci. USA, 84, 5680-5684.
2. Foster, K., Ferrell, R., King-Underwood. L., Povey, S., Attwood, J., Rennick, R., Humphries, S.E. and Henney. A.M. (1993) Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann. Hum Genet., 57, 87-96.
3. Tassabehji. M., Metcalfe, K., Donnai, D., Hurst. J., Reardon, W., Burch. M. and Read, A.P. (1997) Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum. Mol. Genet., 6, 1029-1036.
4. Li, D. Y.,Toiand. A.E., Boak. B.B., Alkinson. D.L., Ensing. GJ., Morris, CA. and Keating. M.T. (1997) Elastin point mutations cause an obstructive vascular disease. supravalvular aortic stenosis. Hum. Mol. Genet., 6, 1021-1028.
5. Wren. C., Oslizlok, P. and Bull. C. (1990) Natural history of SVAS and pulmonary aortic stenosis. J. Am. Coll. Cardiol., 15, 1625-1630.
6. Curran, M.E., Atkinson. D.L., Ewart. A.K., Morris, C.A., Leppert. M.F. and Keating, M.T. (1993) The elastin gene is disrupted by a translocation causing supravalvular aortic stenosis. Cell. 73, 159-168.
7. Morris, C.A., Loker, J., Ensing, G. and Stock, A.D. (1993) Supravalvular aortic stenosis cosegregates with a familial 6:7 translocation which disrupts the elastin gene. Am. J. Med. Genet., 46, 737-744.
8. Ewart, A.K., Jin, W., Atkinson. D., Morris, C.A. and Keating, M.T. (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest., 93, 1071-1077.
9. Olson, T.M., Michels, V.V., Urban. Z., Csiszar, K., Christiano. A.M., Driscoll, D.J., Feldt, R.H., Boyd, C.D. and Thibodeau, S.N. (1995) A 30 kb deletion within the elastin gene results in familial SVAS. Hum. Mol. Geney., 4, 1677-1679.
10. Ewart, A.K., Morris, C.A., Atkinson, D., Weishan, J., Sternes, K., Spallone, P., Stock, A.D., Leppert, M, and Keating, M.T. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet., 5, 11-15.
11. Beighton, P. (1979) Cutis laxa. In Bergsma, D. (ed.), Birth Defects Compendium. 2nd edn. Alan R Liss. New York, p. 280.
12. Reidy, J.P. (1963) Cutis hyperelastica (Ehlers-Danlos) and cutis laxa. Br. J. Plast. Surg., 16, 84-94.
13. Beighton P. (1972) The dominant and recessive forms of cutis laxa. J. Med. Genet., 9, 216-221.
14. Hayden, J.G., Talner, N.S. and Klaus, S.N. (1968) Cutis laxa associated with pulmonary artery stenosis. J. Pediatr., 72, 506-509.
15. Hajjar, B.A. and Joyner, E.N. III (1968) Congenital cutis laxa with advanced cardiopulmonary disease. J. Pediatr., 73, 117-119.
16. Tsuji, A., Yanai, J., Miura, T., Shirai, Y, Osano, M., Hosoda, Y., Sato, M., Asaishi, T., Oda, Y. and Hajikano, H. (1990) Vascular abnormalities in congenital cutis laxa - report of 2 cases. Acta Paediatr. Jpn, 32, 155-161.
17. Weir, E.K. et al. (1977) Cardiovascular abnormalities in cutis laxa. Ear. J. Cardiol., 5, 255-261.
18. Balboni, F.A. (1963) Cutis laxa and ,multiple vascular abnormalities including coarctation of the aorta. Bull. St Francis Hosp., 19, 26-34.
19. Corbett, E., Glaisyer, H., Chan, C., Madden, B., Khagani, A. and Yacoub, M. (1994) Congenital cutis laxa with a dominant inheritance and early onset emphysema. Thorax, 49, 836-837.
20. Damkier, A., Brandrup, F. and Starklint, H. (1991) Cutis laxa: autosomal dominant inheritance in five generations. Clin. Genet., 39, 321-329.
21. Byers, P.H., Siegel, R.C., Holbrook, K.A., Narayanan, A.S., Borstein, P. and Hall, G. (1980) X-linked cutis laxa. N. Engl. J. Med., 303, 61-65.
22. Indik, Z., Yeh, H., Omstein-Goldstein, N., Kucich, U., Abrams, W., Rosenbloom, J.C. and Rosenbloom, J. (1989) Structure of the elastin gene and alternative splicing of elastin mRNA: implications for human disease. Am. J. Med. Genet., 34,81-90.
23. Bairoch, A., Bucher, P. and Hofmann, K. (1995) The PROSITE database, its status in 1995. Nucleic Acids Res., 24, 189-196.
24. Attwood, T.K., Avison, H., Beck, ME., Bewley, M., Bleasby, AJ., Brewster, F., Cooper, P., Degtyarenko, K., Flower, D.R., Geddes, AJ., Kelly, M., Lott, S., Measures, K.M., Parry-Smith, D.J., Perkins, D.N., Scordis, P., Scott, D. and Worledge, C. (1997) The PRINTS database of protein fingerprints: a novel information resource for computational molecular biology. J. Chem. Info. Computer Sci., 37,417-424.
25. Wilmot, C.M. and Thornton, J.M. (1988) Analysis and prediction of beta-turn types in proteins. J. Mol. Biol., 203, 221-232.
26. Wilmot, C.M. and Thomton, J.M. (1990) Beta-turns and their distortions: a proposed new nomenclature. Protein Eng., 3, 479-493.
27. Holbrook, K.A. and Byers, P.H. (1982) Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J. Invest. Dermatol., 79 (Suppl 1), 7s-16s.
28. Uitto, J., Ryhaenen, L., Abraham, P.A. and Perejda, A.J. (1982) Elastin in diseases. J. Invest. Dermatol., 79 (Suppl 1), 160s-168s.
29. Marchase, P., Holbrook, K. and Pinnell, S.R. (1980) A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J. Invest. Dermatol., 75, 399-403.
30. Brown-Augsburger, P. et al. (1996) Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly. Biochem. J., 318, 149-155.
31. Mecham, R.P. and Davis, E.C. (1994) Elastic fibre structure and assembly. In Yurchenco, P.D, Birk, D.E. and Mecham, R.P. (eds), Extracellular Matrix Assembly and Structure. Academic Press, San Diego, CA. pp. 281-314.
32. Rabinovitch, M. (1996) Alterations in elastin and cardiovascular malformations of Williams Syndrome. 7th International Professional Conference on Williams Syndrome: Biology, Medicine, Behaviour. Philadelphia, PA.
33. Ashcroft, G.S., Kielry, C.M., Horan, M.A. and Ferguson, M.W.J. (1997) Age-related changes in the temporal and spatial distributions of fibrillin and elastin mRNAs and proteins in acute cutaneous wounds of healthy humans. J. Pathol., 183, 80-89.
34. Craven, N.M., Watson, R.E.B., Jones, C.J.P., Shuttleworth, C.A., Kielty, C.M. and Griffiths, C.E.M. (1997) Clinical features of photodamaged human skin relate to reduction in collagen VII. Br. J. Dermatol., 137,405-410.