Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene

Investigative Ophthalmology and Visual Science

Volumn 42, Issue 13, 2001, Pages 3331-3336

  Bernstein, Paul S ^a   Tammur, Jaana ^b,c   Singh, Nanda ^a   Hutchinson, Amy ^b   Dixon, Missy ^a   Pappas, Chris M ^a   Zabriskie, Norman A ^a   Zhang, Kang ^d   Petrukhin, Konstantin ^e   Leppert, Mark ^a   Allikmets, Rando ^b  

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

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c UNIVERSITY OF TARTU   (Estonia)

^d LERNER RESEARCH INSTITUTE   (United States)

^e MERCK RESEARCH LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ELOVL4 PROTEIN; EYE PROTEIN; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; FEMALE; GENETIC LINKAGE; GENETICS; HUMAN; MALE; MUTATION; PATHOLOGY; PEDIGREE; PENETRANCE; PHENOTYPE; PHYSIOLOGY; RETINA MACULA DEGENERATION;

ADOLESCENT; ADULT; AGED; CHILD; EYE PROTEINS; FEMALE; HUMAN; LINKAGE (GENETICS); MACULAR DEGENERATION; MALE; MEMBRANE PROTEINS; MIDDLE AGE; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0035650545     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet. 1993;5:308-311.
2. Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236-246.
3. Maugeri A, Klevering BJ, Rohrdclmeider K, Blankenagel A, et al. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet. 2000; 67:960-966.
4. Martinez-Mir A, Paloma E, Allikmets R, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;18:11-12.
5. Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-362.
6. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-1807.
7. Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet. 2000;67:487-491.
8. Stone EM, Nichols BE, Kiniura AE, Weingeist TA, Drack A, Sheffield VC. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol. 1994;112:765-772.
9. Kniazeva M, Chiang MF, Morgan B, et al. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet. 1999;64:1394-1399.
10. Zhang K, Kniazeva M, Han M, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001;27:89-93.
11. Ayyagari R, Zhang K, Hutchinson A, et al. Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet. In press.
12. Gass JDM, ed. Stereoscopic Atlas of Macular Diseases. 4th ed. St. Louis: CV Mosby; 1997.
13. Edwards AO, Miedziak A, Vrabec T, et al. Autosomal dominant Stargardt-like macular dystrophy. I: clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. Am J Ophthalmol. 1999;127:426-435.
14. Donoso LA, Frost AT, Stone EM, et al. Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. Arch Ophthalmol. 2001;119:573-575.
15. Lagali PS, MacDonald IM, Griesinger IB, Chambers ML, Ayyagari R, Wong PW. Autosomal dominant Stargardt-like macular dystrophy: segregating in a large Canadian family. Can J Ophthalmol. 2000; 35:314-324.
16. Griesinger IB, Sieving PA, Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci. 2000;41:248-255.
17. Castellvi-Bel S, Sheikhavandi S, Telatar M, et al. New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. Hum Mutat. 1999;14:156-162.
18. Nijbroek G, Sood S, McIntosh I, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet. 1995;57:8-21.
19. Ahmad W, Zlotogorski A, Panteleyev AA, et al. Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics. 1999;56:141-148.
20. Rocha JL, Friedman E, Boson W, et al. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus. Hum Mutat. 1999; 14:233-239.
21. Ahn J, Wong JT, Molday RS. The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy. J Biol Chem 2000;275:20399-20405.
22. Zhang K, Kniazeva M, Hutchinson A, Han M, Dean M, Allikmets R. The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. Genomics. 1999;60: 234-237.
23. Allikmets R, Hutchinson A, Jaakson K, Kulm M, Pavel H. Genotyping microarray (gene chip) for the ABCR (ARCA4) gene. [ARVO Abstract], Invest Ophthalmol Vis Sci 2001;42(4):S714. Abstract nr 3845.