Prevalence of AIPL1 mutations in inherited retinal degenerative disease

Molecular Genetics and Metabolism

Volumn 70, Issue 2, 2000, Pages 142-150

  Sohocki, Melanie M ^a   Perrault, Isabelle ^b   Leroy, Bart P ^c,d   Payne, Annette M ^c   Dharmaraj, Sharola ^e   Bhattacharya, Shomi S ^c   Kaplan, Josseline ^b   Maumenee, Irene H ^e   Koenekoop, Robert ^f   Meire, Françoise M ^d   Birch, David G ^g   Heckenlively, John R ^h   Daiger, Stephen P ^a,i  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f MCGILL UNIVERSITY   (Canada)

^g RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^h JULES STEIN EYE INSTITUTE   (United States)

ⁱ UNIVERSITY OF TEXAS   (United States)

Author keywords

AIPLI; Cone rod dystrophy; Leber congenital amaurosis; Mutation screening

Indexed keywords

DNA;

ARTICLE; CHROMOSOME 17P; CONTROLLED STUDY; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; HUMAN; LEBER CONGENITAL AMAUROSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; USHER SYNDROME; ZYGOSITY;

EID: 16744367868     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3001     Document Type: Article

References (18)

1. Kaplan, J, Bonneau, D, Frezal, J, Munnich, A, Dufier, J, L. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet85:635-642, 1990.
2. Foxman S G, Heckenlively J R, Batemen B, Wirstschafter J D. Classification of congenital and early-onset retinitis pigmentosa. Arc Ophthalmol. 103:1985;1502-1507.
3. Perrault I, Rozet J M, Calvas P, Gerber S, Camuzat A, Dollfus H, Chatelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Paslier D L, Frezal J, Dufier J, Pittler S, Munnich A, Kaplan J. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet. 14:1996;461-464.
4. Freund C, Wang Q L, Chen S, Muskat B L, Wiles C D, Sheffield V C, Jacobson S G, McInnes R R, Zack D J, Stone E M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genet. 18:1998;311-312.
5. Marlhens F, Bareil C, Griffoin J M, Zrenner E, Amalric P, Eliaou C, Liu S Y, Harris E, Redmond T M, Arnaud B, Claustres M, Hamel C P. Mutations in RPE65 cause Leber's congenital amaurosis. Nature Genet. 17:1997;139-141.
6. Sohocki M M, Bowne S J, Sullivan L S, Blackshaw S, Cepko C L, Payne A M, Bhattacharya S S, Khaliq S, Qasim Mehdi S, Birch D G, Harrison W R, Elder F F, Heckenlively J R, Daiger S P. Mutations in the novel photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nature Genet. 24:2000;79-83.
7. Sohocki M M, Malone K A, Sullivan L S, Daiger S P. Localization of retina/pineal-expressed sequences (ESTs): Identification of novel candidate genes for inherited retinal disorders. Genomics. 58:1999;29-33.
8. Greenberg J, Goliath R, Beighton P, Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet. 3:1994;915-918.
9. Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics. 30:1995;281-286.
10. Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer N D, Jordan T, Mehdi S Q, Payne A M, Bhattacharya S S. A novel locus for Leber congenital amaurosis with anterior keratoconus mapping to 17p13. Invest Ophthalmo Vis Sci. 41:2000;629-633.
11. Ma Q, Whitlock J P. A novel cytoplasmic protein that interacts with the Ah receptor, contains tetratricopeptide repeat motifs, and augments the transcriptional response to 2,3,7,8-tetrachlorodibenzo-p-dioxin. J Biol Chem. 272:1997;8878-8884.
12. Miyata Y, Chambraud B, Radanyi C, Leclerc J, Lebeau M C, Renoir J M, Shirai R, Catelli M G, Yahara I, Baulieu E E. Phosphorylation of the immunosuppressant FK506-binding protein FKBP52 by casein kinase II: Regulation of HSP90-binding activity of FKBP52. Proc Natl Acad Sci. 94:1997;14500-14505.
13. Freund C L, Gregory-Evans C Y, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick J A, Duncan A, Scherer S W, Tsui L C, Loutradis-Anagnostou A, Jacobson S G, Cepko C L, Bhattacharya S S, McInnes R R. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 91:1997;543-553.
14. Swain P K, Chen S, Wang Q L, Affatigato L M, Coats C L, Brady K D, Fishman G A, Jacobson S G, Swaroop A, Stone E, Sieving P A, Zack D J. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 19:1997;1329-1336.
15. Bowne S J, Daiger S P, Hims M M, Sohocki M M, Malone K A, McKie A B, Heckenlively J R, Birch D G, Inglehearn C F, Bhattacharya S S, Bird A, Sullivan L S. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 11:1999;2121-2128.
16. Guillonneau X, Piriev N I, Danciger M, Kozak C A, Cideciyan A V, Jacobson S G, Farber D B. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet. 8:1999;1541-1546.
17. Pierce E A, Quinn T, Meehan T, McGee T L, Berson E L, Dryja T P. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 22:1999;248-254.
18. Sullivan L S, Heckenlively J R, Bowne S J, Zuo J, Hide W A, Gal A, Denton M, Inglehearn C F, Blanton S H, Daiger S P. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet. 22:1999;255-259.