Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes

Journal of Human Genetics

Volumn 51, Issue 9, 2006, Pages 827-831

  Ismail, Muhammad ^a   Abid, Aiysha ^a   Anwar, Khalid ^a   Qasim Mehdi, S ^a   Khaliq, Shagufta ^a  

^a Dr A Q Khan Research Laboratories   (Pakistan)

Author keywords

Cone rod dystrophy; CORD8; Phenotype; Retinal dystrophy; Visual acuity

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 1; CHROMOSOME MAP; CLINICAL EXAMINATION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MICROSATELLITE MARKER; PAKISTAN; PHENOTYPE; RETINA CONE; RETINA DYSTROPHY; RETINA ROD;

ADULT; CHROMOSOMES, HUMAN, PAIR 1; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; PAKISTAN; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 33748655207     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0028-y     Document Type: Article

References (20)

1. Abid A, Ismail M, Mehdi SQ Khaliq S (2006) Identification of novel mutations in SEMA4A gene associated with retinal degenerative diseases. J Med Genet 43:378-381
2. Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K (1995) A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics 30:281-286
3. Berson E, Gouras P, Gunkel R (1968) Progressive cone-rod degeneration. Arch Ophthalmol 80:68-76
4. Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS (2002) Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet 11:87-92
5. Cremers FPM, van de Pol DJR, van Driel M, den Hollander AI, van Haren FJJ, Knoers NVAM, Tijmes N, Bergen AAB, Rohrschneider K, Blankenagel A, Pinckers AJLC, Deutman AF Hoyng CB (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
6. Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB (2001) CORD9 a new locus for arCORD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest Ophthalmol Vis Sci 42:2458-2465
7. Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S (1994) Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet 6:210-213
8. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Herbrick JAS, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR (1997) Conerod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543-553
9. Hameed A, Abid A, Amtul-Aziz, Ismail M, Mehdi SQ, Khaliq S (2003) Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet 40:616-619
10. Heckenlively JR (1987) RP cone-rod degeneration. Trans Am Ophthalmol Soc 85:438-470
11. Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BHF, Moore AT, Bird AC, Hunt DM (1998a) Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet 63:274-279
12. Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB, Garbers DL, Bird AC, Moore AT, Hunt DM (1998b) Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone dystrophy. Hum Mol Genet 7:1179-1184
13. Khaliq S, Hameed A, Ismail M, Anwar K, Leroy BP, Mehdi SQ, Payne AM, Bhattacharya SS (2000) Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-q24. Invest Ophthalmol Vis Sci 41:3709-3712
14. Klystra JA, Aylsworth AS (1993) Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can J Ophthalmol 28:79-80
15. Moore AT (1992) Cone and cone-rod dystrophies. J Med Genet 29:289-290
16. Nakazawa M, Kikawa E, Chida Y, Tamai M (1994) Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration. Hum Mol Genet 3:1195-1196
17. Payne AM, Khaliq S, Hameed A, Ismail M, Bessant DAR, Mehdi SQ, Bhattacharya SS (1999) A Gene for autosomal recessive cone-rod dystrophy maps to chromosome 17p12-13. Am J Hum Genet 65:2490
18. Swain PK, Chen SM, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ (1997) Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:1329-1336
19. Warburg M, Sjo O, Tranebjaerg L, Fledelius HC (1991) Deletion mapping of a retinal cone-rod dystrophy assignment to 18q211. Am J Med Genet 39:288-293
20. Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69:722-737