Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA

Eye

Volumn 20, Issue 7, 2006, Pages 817-819

  Ozgul R K ^a   Bozkurt, B ^b   Kiratli, H ^a   Ogus A ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Hacettepe University School of Medicine ^*

Author keywords

Genetic locus; LCA; LCA5; Macular coloboma

Indexed keywords

AROMATIC HYDROCARBON RECEPTOR; DNA; GENE PRODUCT; GENOMIC DNA; GUANYLATE CYCLASE; HOMEODOMAIN PROTEIN; RETINA PIGMENT EPITHELIUM PROTEIN 65; RETINAL DEHYDROGENASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CRX; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 6Q; COLOBOMA; CONSANGUINITY; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEBER CONGENITAL AMAUROSIS; MALE; MICROSATELLITE MARKER; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; PAKISTAN; PATHOGENESIS; POLYMERASE CHAIN REACTION; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; TURKEY (REPUBLIC); VISUAL SYSTEM EXAMINATION;

EID: 33748260978     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/sj.eye.6702024     Document Type: Article

References (17)

1. Smith D, Oestreicher J, Musarella MA. Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life. Ophthalmology 1990; 97: 1156-1161.
2. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H et al. Retinal specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 1996; 14: 461-464.
3. Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 2000; 24: 79-83.
4. Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001; 119: 415-420.
5. Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC et al. De nova mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998; 18: 311-312.
6. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 1997; 17: 139-141.
7. Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68: 1295-1298.
8. Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H et al. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am J Hum Genet 2004; 75: 639-646.
9. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D et al. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23: 306-317.
10. Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL et al. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 1998; 103: 328-333.
11. Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN et al. A novel locus for Leber congenital amaurosis on chromosome 6q. Am J Hum Genet 2000; 66: 319-326.
12. Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH et al. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Eur J Hum Genet 2003; 11(5): 420-423.
13. Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF. Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. Br J Ophthalmol 2003; 87: 473-475.
14. Kiratli H, Bozkurt B. Macular Coloboma Type Leber's Congenital Amaurosis [Article In French]. J Fr Ophtalmol 2002; 25: 67-70.
15. Hanein S, Perrault I, Gerber S, Tanguy G, Hamel C, Dufier JL et al. Amaurose congénitale de Leber: Le point sur l'hétérogénéité génétique, actualisation de la définition clinique. J Fr Ophtalmol 2005; 28: 98-105.
16. Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D et al. Leber congenital amaurosis. Mol Genet Metab 1999; 68: 200-208.
17. Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M et al. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. Can J Ophthalmol 2001; 36: 252-259.