Clinical characterization and genetic mapping of North Carolina macular dystrophy

Vision Research

Volumn 48, Issue 3, 2008, Pages 470-477

  Yang, Zhenglin ^a,b   Tong, Zongzhong ^a,b   Chorich, Louis J ^c   Pearson, Erik ^a,b   Yang, Xian ^a,b   Moore, Anthony ^d   Hunt, David M ^d   Zhang, Kang ^a,b  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Fine mapping; Interval; NCDR1; NCMD

Indexed keywords

EYE PROTEIN; PROTEIN MCDR1; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAPLOIDY; HUMAN; HYBRID CELL; LYMPHOBLASTOID CELL; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; UNITED STATES;

CELL LINE, TRANSFORMED; CELL TRANSFORMATION, VIRAL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MACULAR DEGENERATION; MALE; MICROSATELLITE REPEATS; PEDIGREE; RETINAL DRUSEN;

EID: 38749134462     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.visres.2007.09.015     Document Type: Article

References (34)

1. Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genetics 15 3 (1997) 236-246
2. Cameron D.J., Tong Z., Yang Z., Kaminoh J., Kamiyah S., Chen H., et al. Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier functional, and neonatal survival. International Journal of Biological Sciences 3 (2007) 111-119
3. Chou Y.H., Brown E.M., Levi T., Crowe G., Atkinson A.B., Arnqvist H.J., et al. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nature Genetics 1 4 (1992) 295-300
4. Frank H.R., Landers III M.B., Williams R.J., and Sidbury J.B. A new dominant progressive foveal dystrophy. American Journal of Ophthalmology 78 6 (1974) 903-916
5. Garibaldi D.C., and Zhang K. Molecular genetics of macular degeneration. International Ophthalmology Clinics 39 4 (1999) 117-142
6. Gregory C.Y., Evans K., Wijesuriya S.D., Kermani S., Jay M.R., Plant C., et al. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Human Molecular Genetics 5 7 (1996) 1055-1059
7. Heon E., Piguet B., Munier F., Sneed S.R., Morgan C.M., Forni S., et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Archives of Ophthalmology 114 2 (1996) 193-198
8. Karan G., Lillo C., Yang Z., Cameron D.J., Locke K.G., Zhao Y., et al. Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: A model for macular degeneration. Proceedings of the National Academy of Sciences of the United States of America 102 11 (2005) 4164-4169
9. Kniazeva M., Chiang M.F., Morgan B., Anduze A.L., Zack D.J., Han M., et al. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. American Journal Human Genetics 64 5 (1999) 1394-1399
10. Kniazeva M., Traboulsi E.I., Yu Z., Stefko S.T., Gorin M.B., Shugart Y.Y., et al. A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. American Journal of Ophthalmology 130 2 (2000) 197-202
11. Lathrop G.M., Lalouel J.M., Julier C., and Ott J. Strategies for multilocus linkage analysis in humans. Proceedings of the National Academy of Sciences of the United States of America 81 11 (1984) 3443-3446
12. Lathrop G.M., Lalouel J.M., Julier C., and Ott J. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. American Journal of Human Genetics 37 3 (1985) 482-498
13. Lefler W.H., Wadsworth J.A., and Sidbury Jr. J.B. Hereditary macular degeneration and amino-aciduria. American Journal of Ophthalmology 1 1 Part 2 (1971) 224-230
14. Michaelides M., Hunt D.M., and Moore A.T. The genetics of inherited macular dystrophies. Journal of Medical Genetics 40 9 (2003) 641-650
15. Nichols B.E., Sheffield V.C., Vandenburgh K., Drack A.V., Kimura A.E., and Stone E.M. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genetics 3 3 (1993) 202-207
16. Petrukhin K., Koisti M.J., Bakall B., Li W., Xie G., Marknell T., et al. Identification of the gene responsible for Best macular dystrophy. Nature Genetics 19 3 (1998) 241-247
17. Rabb M.F., Mullen L., Yelchits S., Udar N., and Small K.W. A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. American Journal of Ophthalmology 125 4 (1998) 502-508
18. Reichel M.B., Kelsell R.E., Fan J., Gregory C.Y., Evans K., Moore A.T., et al. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. British Journal of Ophthalmology 82 10 (1998) 1162-1168
19. Sauer C.G., Schworm H.D., Ulbig M., Blankenagel A., Rohrschneider K., Pauleikhoff D., et al. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). Journal of Medical Genetics 34 12 (1997) 961-966
20. Small K.W., Garcia C.A., Gallardo G., Udar N., and Yelchits S. North Carolina macular dystrophy (MCDR1) in Texas. Retina 18 5 (1998) 448-452
21. Small K.W., Hermsen V., Gurney N., Fetkenhour C.L., and Folk J.C. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. Archives of Ophthalmology 110 4 (1992) 515-518
22. Small K.W., Puech B., Mullen L., and Yelchits S. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. Molecular Vision 3 (1997) 1
23. Small K.W., Udar N., Yelchits S., Klein R., Garcia C., Gallardo G., et al. North Carolina macular dystrophy (MCDR1) locus: A fine resolution genetic map and haplotype analysis. Molecular Vision 5 (1999) 38
24. Small K.W., Weber J., Roses A., and Pericak-Vance P. North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. Ophthalmic Paediatrics and Genetics 14 4 (1993) 143-150
25. Small K.W., Weber J.L., Roses A., Lennon F., Vance J.M., and Pericak-Vance M.A. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 13 3 (1992) 681-685
26. Stone E.M., Lotery A.J., Munier F.L., Heon E., Piguet B., Guymer R.H., et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nature Genetics 22 2 (1999) 199-202
27. Sun H., Molday R.S., and Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. Journal of Biological Chemistry 274 12 (1999) 8269-8281
28. Weber B.H., Vogt G., Wolz W., Ives E.J., and Ewing C.C. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nature Genetics 7 2 (1994) 158-161
29. Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A., et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genetics 3 3 (1993) 213-218
30. Weng J., Mata N.L., Azarian S.M., Tzekov R.T., Birch D.G., and Travis G.H. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98 1 (1999) 13-23
31. Yan H., Kinzler K.W., and Vogelstein B. Tech.sight. Genetic testing-present and future. Science 289 5486 (2000) 1890-1892
32. Yan H., Papadopoulos N., Marra G., Perrera C., Jiricny J., Boland C.R., et al. Conversion of diploidy to haploidy. Nature 403 6771 (2000) 723-724
33. Yang Z., Peachey N.S., Moshfeghi D.M., Thirumalaichary S., Chorich L., Shugart Y.Y., et al. Mutations in the RPGR gene cause X-linked cone dystrophy. Human Molecular Genetics 11 5 (2002) 605-611
34. Zhang K., Kniazeva M., Han M., Li W., Yu Z., Yang Z., et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nature Genetics 27 1 (2001) 89-93