A novel locus for X-linked retinitis pigmentosa

Annals of the Academy of Medicine Singapore

Volumn 35, Issue 7, 2006, Pages 476-478

  Tong, Zongzhong ^a   Yang, Zhenglin ^a,b   Meyer, Jay J ^a   McInnes, Allen W ^a   Xue, Lai ^a   Azimi, Asif M ^a   Baird, Jenn ^a   Zhao, Yu ^a   Pearson, Erik ^a   Wang, Changguan ^c   Chen, Yali ^a   Zhang, Kang ^a  

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

^b SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^c PEKING UNIVERSITY   (China)

Author keywords

Genetic linkage; Mutation screening; Retinopathy

Indexed keywords

GENOMIC DNA;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC LINKAGE; HUMAN; INHERITANCE; ONSET AGE; OPHTHALMOSCOPY; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SHORT TANDEM REPEAT; VISUAL ACUITY; X CHROMOSOME LINKED DISORDER;

EID: 33749026952     PISSN: 03044602     EISSN: 29724066     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Humphries P, Kenna P, Farrar GJ. On the molecular genetics of retinitis pigmentosa. Science 1992;256:804-8.
2. Rivolta C, Sharon D, DeAngelis MM, Dryga TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002;11:1219-27. Erratum in: Hum Mol Genet 2003;12:583-4.
3. Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975;59:177-99.
4. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 1998;19:327-32.
5. Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996;13:35-42.
6. Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 1996;5:1035-41.
7. Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 2000;25:462-6.
8. Hong DH, Yue G, Adamian M, Li T. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem 2001;276:12091-9.
9. Kniazeva M, Chiang MF, Morgan B, Anduze AL, Zack DJ, Han M, et al. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet 1999;64:1394-9.
10. Kniazeva M, Traboulsi EI, Yu Z, Stefko ST, Gorin MB, Shugart YY, et al. A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. Am J Ophthalmol 2000;130:197-202.
11. Lathrop GM, Chotai J, Ott J, Lalouel JM. Tests of gene order from three-locus linkage data. Ann Hum Genet 1987;51:235-49.
12. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A 1984;81:3443-6.
13. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-98.
14. Ott J. Analysis of Human Genetic Linkage. 3rd ed. Baltimore, MD: Johns Hopkins University, 1999.
15. 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. Nat Genet 2001;27:89-93.
16. Yang Z, Peachey NS, Moshfeghi DM, Thirumalaichary S, Chorich L, Shugart YY, et al. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet 2002;11:605-11.