Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

European Journal of Human Genetics

Volumn 11, Issue 5, 2003, Pages 420-423

  Keen, T Jeffrey ^a   Mohamed, Moin D ^a   McKibbin, Martin ^b   Rashid, Yasmin ^c   Jafri, Hussain ^c   Maumenee, Irene H ^d   Inglehearn, Chris F ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c FATIMA JINNAH MEDICAL COLLEGE   (Pakistan)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

1p36; LCA; LCA9; Leber's congenital amaurosis; Linkage; Retina

Indexed keywords

DNA; RETINOID BINDING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 1P; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC SCREENING; HUMAN; LEBER CONGENITAL AMAUROSIS; LINKAGE ANALYSIS; MALE; PAKISTAN; PRIORITY JOURNAL; RETINA DEGENERATION;

ADOLESCENT; ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE;

EID: 0038412761     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200981     Document Type: Article

References (20)

1. Foxman SG, Heckenlively JR, Bateman JB, Wirtschafter JD: Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol 1985; 103: 1502-1506.
2. Freund CL, Wang QL, Chen S et al: De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998; 18: 311-312.
3. Perrault I, Rozet JM, Calvas P et al: Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 1996; 14: 461-464.
4. Marlhens F, Bareil C, Griffoin JM et al: Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 1997; 17: 139-141.
5. Sohocki MM, Bowne SJ, Sullivan LS et al: Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 2000; 24: 79-83.
6. Dryja TP, Adams SM, Grimsby JL et al: Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68: 1295-1298.
7. Lotery AJ, Jacobson SG, Fishman GA et al: Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001; 119: 415-420.
8. Dharmaraj S, Li Y, Robitaille JM et al: A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet 2000; 66: 319-326.
9. Stockton DW, Lewis RA, Abboud EB et al: A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 1998; 103: 328-333.
10. Lander ES, Botstein D: Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987; 236: 1567-1570.
11. Wahab A, Ahmad M: Biosocial perspective of consanguineous marriages in rural and urban Swat, Pakistan. J Biosoc Sci 1996; 28: 305-313.
12. Zlotogora J: What is the birth defect risk associated with consanguineous marriages? Am J Med Genet 2002; 109: 70-71.
13. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
14. Lathrop GM, Lalouel JM, Julier C, Ott J: Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81: 3443-3446.
15. Kong A, Gudbjartsson DF, Sainz J et al: A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241-247.
16. Bok D: Processing and transport of retinoids by the retinal pigment epithelium. Eye 1990; 4: 326-332.
17. Seeliger MW, Biesalski HK, Wissinger B et al: Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest Ophthalmol Vis Sci 1999; 40: 3-11.
18. Danciger M, Hendrickson J, Rao N et al: Positional cloning studies of the Rd4 mouse retinal degeneration. Invest Ophthalmol Vis Sci 2000; 41: S203 (abstract).
19. Roderick TH, Chang B, Hawes NL, Heckenlively JR: A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Genomics 1997; 42: 393-396.
20. Shapira SK, McCaskill C, Northrup H et al: Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997; 61: 642-650.