Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

Human Molecular Genetics

Volumn 19, Issue 19, 2010, Pages 3693-3701

  Schindler, Emily I ^a,b   Nylen, Erik L ^b   Ko, Audrey C ^a,b   Affatigato, Louisa M ^a,b   Heggen, Andrew C ^a,b   Wang, Kai ^a   Sheffield, Val C ^a,b   Stone, Edwin M ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE REGRESSION; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; STARGARDT DISEASE; VISUAL ACUITY; VISUAL FIELD;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; FUNDUS OCULI; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETICS, POPULATION; HUMANS; REGRESSION ANALYSIS; RETINITIS PIGMENTOSA; TIME FACTORS; VISUAL ACUITY; VISUAL FIELDS;

EID: 77956503700     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq284     Document Type: Article

References (24)

1. Shroyer, N.F., Lewis, R.A. and Lupski, J.R. (2000) Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum. Genet., 106, 244-248.
2. Shroyer, N., Lewis, R.A., Yatsenko, A.N., Wensel, T.G. and Lupski, J.R. (2001) Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Mol. Genet., 10, 2671-2678.
3. Webster, A.R., Heon, E., Lotery, A.J., Vandenburgh, K., Casavant, T.L., Oh, K.T., Beck, G., Fishman, G.A., Lam, B.L., Levin, A. et al. (2001) An analysis of allelic variation in the ABCA4 gene. Invest. Ophthalmol. Vis. Sci., 42, 1179-1189.
4. Maugeri, A., van Driel, M.A., van de Pol, D.J., Klevering, B.J., van Haren, F.J., Tijmes, N., Bergen, A.A., Rohrschneider, K., Blankenagel, A., Pinckers, A.J. et al. (1999) The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am.J.Hum.Genet., 64, 1024-1035.
5. Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A. et al. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet., 15, 236-246.
6. Cremers, F.P., van de Pol, D.J., van Driel, M., den Hollander, A.I., van Haren, F.J., Knoers, N.V., Tijmes, N., Bergen, A.A., Rohrschneider, K., Blankenagel, A. et al. (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet., 7, 355-362.
7. Martinez-Mir, A., Paloma, E., Allikmets, R., Ayuso, C., del Rio, T., Dean, M., Vilageliu, L., Gonzalez-Duarte, R. and Balcells, S. (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat. Genet., 18, 11-12.
8. Fishman, G.A., Stone, E.M., Grover, S., Derlacki, D.J., Haines, H.L. and Hockey, R.R. (1999) Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch. Ophthalmol., 117, 504-510.
9. Maugeri, A., Klevering, B.J., Rohrschneider, K., Blankenagel, A., Brunner, H.G., Deutman, A.F., Hoyng, C.B. and Cremers, F.P. (2000) Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am. J. Hum. Genet., 67, 960-966.
10. Fishman, G.A., Stone, E.M., Eliason, D.A., Taylor, C.M., Lindeman, M. and Derlacki, D.J. (2003) ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Arch. Ophthalmol., 121, 851-855.
11. Azarian, S.M., Megarity, C.F., Weng, J., Horvath, D.H. and Travis, G.H. (1998) The human photoreceptor rim protein gene (ABCR): genomic Human Molecular Genetics, 2010, Vol. 19, No. 19 3701 structure and primer set information for mutation analysis. Hum. Genet., 102, 699-705.
12. Stone, E.M., Webster, A.R., Vandenburgh, K., Streb, L.M., Hockey, R.R., Lotery, A.J. and Sheffield, V.C. (1998) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat. Genet., 20, 328-329.
13. Simonelli, F., Testa, F., de Crecchio, G., Rinaldi, E., Hutchinson, A., Atkinson, A., Dean, M., D'Urso, M. and Allikmets, R. (2000) New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest. Ophthalmol. Vis. Sci., 41, 892-897.
14. Molday, R.S., Zhong, M. and Quazi, F. (2009) The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. Biochim. Biophys. Acta, 1791, 573-583.
15. Allikmets, R. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet., 17, 122.
16. Weng, J., Mata, N.L., Azarian, S.M., Tzekov, R.T., Birch, D.G. and Travis, G.H. (1999) Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell, 98, 13-23.
17. Mata, N., Weng, J. and Travis, G. (2000) Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc. Natl Acad. Sci. USA, 97, 7154-7159.
18. Beharry, S., Zhong, M. and Molday, R.S. (2004) N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR). J. Biol. Chem., 279, 53972-53979.
19. Sparrow, J.R., Nakanishi, K. and Parish, C.A. (2000) The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells. Invest. Ophthalmol. Vis. Sci., 41, 1981-1989.
20. Young, R.W. (1971) The renewal of rod and cone outer segments in the rhesus monkey. J. Cell Biol., 49, 303-318.
21. Young, R.W. (1978) The daily rhythm of shedding and degradation of rod and cone outer segment membranes in the chick retina. Invest. Ophthalmol. Vis. Sci., 17, 105-116.
22. Stone, E.M. (2007) Leber congenital amaurosis-a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am. J. Ophthalmol., 144, 791-811.
23. Ennis, S., Jomary, C., Mullins, R., Cree, A., Chen, X., Macleod, A., Jones, S., Collins, A., Stone, E. and Lotery, A. (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet, 372, 1828-1834.
24. Lange (2002) Mathematical and Statistical Methods for Genetic Analysis. Springer, New York, NY.