Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

Journal of Medical Genetics

Volumn 42, Issue 5, 2005, Pages 436-438

  Khaliq, S ^a,b   Abid, A ^a,b   Ismail, M ^a,b   Hameed, A ^a,b   Mohyuddin, A ^a,b   Lall, P ^c   Aziz, A ^d   Anwar, K ^a,b   Mehdi, S Qasim ^a,b,e  

^a Dr A Q Khan Research Laboratories   (Pakistan)

^b Christian Hospital ^*  (Pakistan)

^c Christian Hospital   (Pakistan)

^d AL SHIFA TRUST EYE HOSPITAL   (Pakistan)

^e Institute of Biomedical and Genetic Engineering   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATION RATE; NUCLEIC ACID BASE SUBSTITUTION; PAKISTAN; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RP1 GENE; SCHOOL CHILD; STOP CODON;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MUTATION; PAKISTAN; PEDIGREE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA;

EID: 18844390690     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.024281     Document Type: Article

References (17)

1. University of Texas-Houston Health Science Center. RetNet. Available at: http://www.sph.uth.tmc.edu/Retnet/disease.htm.
2. Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA. Identification and sub cellular localization of the RP1 protein in human and mouse photoreceptors. Invest Opthalmol Vis Sci 2002;43:22-32.
3. Gao J, Cheon K, Nusinowitz S, Liu Q, Di Bei, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the ritinitis pigmentosa-1 (RP1) gene. PNAS 2002;99:5698-703.
4. RP1 is required for the correct stacking of the outer segment discs. Invest Opthalmol Vis Sci 2003;44:4171-83.
5. Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet 1999;8:2121-8.
6. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 1999;22:248-54.
7. Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermoni S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS. RP1 protein truncating mutations predominate at the RP1 adRP locus. Invest Ophth Vis Sci 2000;41:4069-73.
8. Khaliq S, Abid A, Hameed A, Anwar K, Mohyuddin A, Azmat Z, Shami SA, Ismail M, Mehdi SQ. Mutation screening of Pakistani families with congenital eye disorders. Exp Eye Res 2003;76:343-8.
9. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tomir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner J. Y chromosome sequence variation and the history of human populations. Nat Genet 2000;26:358-61.
10. Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E. A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa. Br J Ophthalmol 2002;86:328-32.
11. Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Opthalmol Vis Sci 2001;42:2217-24.
12. Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet 1999;22:255-9.
13. Bell J. Predicting disease using genomics. Nature 2004;429:453-6.
14. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992;1:209-13.
15. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-6.
16. Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM. Complete exon intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet 2001;9:561-71.
17. Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet 2002;40:616-19.