A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 8, 2000, Pages 2076-2079

  Silva, Eduardo ^a   Yang, Jun Ming ^b   Li, Yingying ^a   Dharmaraj, Sharola ^a   Sundin, Olof H ^b   Maumenee, Irene H ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b Johns Hopkins Medical Institutions ^*

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMEOBOX; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; BLINDNESS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PHENOTYPE; TRANS-ACTIVATORS;

EID: 0033949797     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Leber T. Uber retinitis pigmentosa und angeborene amaurose. Graefes Arch Klin Ophthalmol. 1869;15:1-25.
2. Foxman SG, Heckenlively JR, Bateman BJ, et al. Classification of congenital and early-onset retinitis pigmentosa. Arch Ophthalmol. 1985;103:1502-1506.
3. Heher KL, Traboulsi El, Maumenee IH. The natural history of Leber's congenital amaurosis. Ophthalmology. 1992;99:241-245.
4. Francois J. Leber's tapetoretinal reflex. Int Ophthalmol Clin. 1968; 8:929-947.
5. Sohocki MM, Sullivan LS, Mintz-Hittner HA, et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet. 1998;63:1307-1315.
6. Gu SM, Thompson DA, Srikumari CS, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-197.
7. Marlhens F, Bareil C, Griffoin JM, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-141.
8. Dharmaraj S, Li Y, Robitaille J, et al. A novel locus for Leber congenital amaurosis maps on 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. 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.
11. 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.
12. 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.
13. Swaroop A, Wang Q-L, Wu W, et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet. 1999;8:299-305.
14. Swain PK, Chen S, Wang QL, et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 1997;19:1329-1336
15. Fry M, Loeb LA. A DNA polymerase a pause site is a hotspot for nucleotide misinsertion. Proc Natl Acad Sci USA. 1992;89:763-767.
16. Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci. 1998;39:2417-2426.
17. Singh S, Tang HK, Lee JY, Saunders GF. Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. J Biol Chem. 1998;273:21531-21541.