Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Nature Genetics

Volumn 5, Issue 1, 1993, Pages 11-16

  Ewart, Amanda K ^a   Morris, Colleen A ^e,f   Atkinson, Donald ^a   Jin, Weishan ^a   Sternes, Keith ^a   Spallone, Patricia ^g   Stock, A Dean ^f,g   Leppert, Mark ^a   Keating, Mark T ^a,b,c,d  

^a Department of Human Genetics ^*  (United States)

^b Division of Cardiology   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF UTAH   (United States)

^e UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

^f Lab Animal Medicine   (United States)

^g UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE; GENE LOCUS; GENE MUTATION; GENOTYPE; HEMIZYGOSITY; HUMAN; IN SITU HYBRIDIZATION; MALE; SOUTHERN BLOTTING;

ADULT; ALLELES; AORTIC VALVE STENOSIS; ARTERIES; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; CONNECTIVE TISSUE DISEASES; DEVELOPMENTAL DISABILITIES; ELASTIN; GENES, STRUCTURAL; GENOTYPE; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; PEDIGREE; SEQUENCE DELETION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; SYNDROME;

EID: 0027185655     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0993-11     Document Type: Article

References (28)

1. Beuren, A. J. Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth Defects 8, 45-46 (1972).
2. Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C. & Blackburn, B. L. Natural history of Williams syndrome. J. Pediatr. 113, 318-326 (1988).
3. Bellugi, U., Bihrle, A., Jernigan, T., Trauner, D. & Doherty, S., rophysical, neurological, and neuroanatomical profile of Williams syndrome. Am. J. med. Genet. 6, 115-125 (1990).
4. Dilts, C., Morris, C. & Leonard, C. Hypothesis for development of a behavioral phenotype in Williams syndrome. Am. J. med. Genet. 6, 126-131 (1990).
5. Chevers, N. Observations on the diseases of the orifice and valves of the aorta. Guys Hosp. Rep. 7, 387-421 (1842).
6. Eisenberg, R., Young, D., Jacobson, B. & Voito, A. Familial supravalvular aortic stenosis. Am J. Dis. Child. 108, 341-347 (1964).
7. Ewart, A. K. et al. A human vascular disorder, supravalvuar aortic stenosis, maps to chromosome 7. Proc. natn. Acad. Sci. U. S. A. 90, 3226-3230 (1993).
8. Curran, M. E. et al. The eiastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73, 159-168 (1993).
9. Morris, C., Thomas, I. T. & Greenberg, F. Williams syndrome: autosomal dominant inheritance. Am. J. med. Genet. (in the press).
10. Tromp, G. et al. A to G polymorphism in ELN gene. Nucl. Acids Res. 19, 4314 (1991).
11. Perou, M. Congenital supravalvular aortic stenosis. Arch. Pathol. 71, 113-126 (1961).
12. O'Connor, W. et al. Supravalvular aortic stenosis: clinical and pathologic observations in six patients. Arch. Pathol. Lab. Med. 109, 179-185 (1985).
13. Morris, C. A., Loker, J., Ensing, G. & Stock, A. D. Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene. Am. J. med. Genet. 46, 737-744 (1993).
14. Wahl, G. M. et al. Cosmid vectors for rapid genomic walking, restriction mapping, and gene transfer. Proc. natn. Acad. Sci. U. S. A. 84, 2160-2164 (1987).
15. Benton, W. D. & Davis, R. W. Screening I-gt recombinant clones by hybridization to single plaques in situ. Science 196, 180-182 (1977).
16. Southern, E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. molec. Biol. 98, 503-517 (1975).
17. Curran, M. E., Landes, G. M. & Keating, M. T. Molecular cloning, characterization and genomic organization of a human cardiac potassium channel gene. Genomics 12, 729-737 (1992).
18. Kunkel, L. M. et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc. natn. Acad. Sci. U. S. A 74, 1245-1249 (1977).
19. Goodman, B. K., Xu, W., Nottoli, V., Rundall-Jackson, T. & Stock, A. D. A simple technique for bone marrow preparations with modified hypotonic treatment. Karyogram 11, 95-96 (1985).
20. Klever, M., Grond-Ginsbach, C., Scherthan, H. & Schroeder-Kurth, T. M., Chromosomal in situ hybridization after giemsa banding. Hum. Genet. 86, 484-486 (1991).
21. Pinkel, D. et al. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc. natn. Acad. Sci. U. S. A. 85, 9138-9142 (1988).
22. Tkachuk, D. et al. Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization. Science 250, 559-562 (1990).
23. Fazio, M. J. et al. Human elastin gene: new evidence for localization of elastin to the long arm of chromosome 7. Am. J. hum. Genet. 48, 696-703 (1991).
24. O'Connell, P. et al. Twenty loci form a continuous linkage map of marker for human chromosome 2. Genomics 5, 738-745 (1989).
25. Vogelstein, B. et al. Allelotype of colorectal carcinomas. Science 244, 207-211 (1989).
26. Nakamura, Y. et al. Variable number of tandem repeat markers for human gene mapping. Science 235, 1616-1622 (1987).
27. Nakamura, Y. et al. A mapped set of DNA markers for human chromosome 17. Genomics 2, 302-309 (1988).
28. Preus, M., Williams syndrome: Objective definition and diagnosis. Clin. Genet. 24, 433-438 (1984).