Bestrophin gene mutations in patients with best vitelliform macular dystrophy

Genomics

Volumn 58, Issue 1, 1999, Pages 98-101

  Caldwell, Germaine M ^a   Kakuk, Laura E ^b   Griesinger, Irina B ^b   Simpson, Stacey A ^a   Nowak, Norma J ^a   Small, Kent W ^c   Maumenee, Irene H ^d   Rosenfeld, Philip J ^e   Sieving, Paul A ^b   Shows, Thomas B ^a   Ayyagari, Radha ^b  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; ELECTRORETINOGRAPHY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA MACULA VITELLIFORM DEGENERATION;

EID: 0033563228     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5808     Document Type: Article

References (17)

1. Best F. Ueber eine hereditaere Maculaaffektion. Z. Augenheilk. 13:1905;199-212.
2. Blodi C. F., Stone E. M. Best vitelliform dystrophy. Ophthalmic Paediatr. Genet. 11:1990;49-59.
3. Braley A. E. Dystrophy of the macula. Am. J. Ophthal. 61:1966;1-24.
4. Brecher R., Bird A. C. Adult vitelliform macular dystrophy. Eye. 4:1990;210-215.
5. Chandrasekharappa S. C., Guru S. C., Manickam P., Olufemi S. E., Collins F. S., Emmert-Buck M. R., Debelenko L. V., Zhuang Z., Lubensky I. A., Liotta L. A., Crabtree J. S., Wang Y., Roe B. A., Weisemann J., Boguski M. S., Agarwal S. K., Kester M. B., Kim Y. S., Heppner C., Dong Q., Spiegel A. M., Burns A. L., Marx S. J. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 276:1997;404-407.
6. Graff C., Eriksson A., Forsman K., Sandgren O., Holmgren G., Wadelius C. Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. Hum. Genet. 101:1997;263-270.
7. Gutman I., Walsh J. B., Henkind P. Vitellifrom macular dystrophy and butterfly-shaped epithelial dystrophy: A continuum? Br. J. Ophthalmol. 66:1982;170-173.
8. Hou Y., Richards J. E., Bingham E., Pawar H., Scott K., Lunetta K. L., Boehnke M., Sieving P. Linkage study of Best vitelliform macular dystrophy (VMD2) in a large North American family. Hum. Hered. 46:1996;211-220.
9. Lachapelle P., Quigley M. G., Polomeno R. C., Little J. M. Abnormal dark-adapted electroretinogram in Best vitelliform macular degeneration. Can. J. Ophthalmol. 23:1988;279-284.
10. Loewenstein A., Godel V., Godel L., Lazar M. Variable phenotypic expressivity of Best vitelliform dystrophy. Ophthalmic Paediatr. Genet. 14:1993;131-136.
11. Marquardt A., Stohr H., Passmore L. A., Kramer F., Rivera A., Weber B. H. F. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best disease). Hum. Mol. Genet. 7:1998;1517-1525.
12. Petrukhin K., Koisti M. J., Bakall B., Li W., Xie G., Marknell T., Sandgren O., Forsman K., Holmgren G., Andreasson S., Vujic M., Bergen A. A., McGarty-Dugan V., Figueroa D., Austin C. P., Metzker M. L., Caskey C. T., Wadelius C. Identification of the gene responsible for Best macular dystrophy. Nat. Genet. 19:1998;241-247.
13. Stone E. M., Nichols B. E., Streb L. M., Kimura A. E., Sheffield V. C. Genetic linkage of vitelliform macular degeneration (Best disease) to chromosome 11q13. Nat. Genet. 1:1992;246-250.
14. Wadelius C., Koisti M. J., Bakall B., Marknell T., Ingvast S., Sandgren O., Li W., Xie G., McGarty-Dugan V., Figueroa D., Austin C. P., Metzker M., Caskey C. T., Petrukhin K. Clustering of mutations in the positionally cloned gene for Best macular dystrophy. Am. J. Hum. Genet. 63:1998;2273.
15. Weber B. H., Walker D., Muller B. Molecular evidence for nonpenetrance in Best disease. J. Med. Genet. 31:1994;388-392.
16. Weber B. H., Walker D., Muller B., Mar L. Best vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: No evidence for locus heterogeneity. Genomics. 20:1994;267-274.
17. White M. B., Carvalho M., Derse D., O'Brien S. J., Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics. 12:1992;301-306.