Leber congenital amaurosis: Survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 15-20

  Hanein, Sylvain ^b   Perrault, Isabelle ^b   Gerber, Sylvie ^b   Tanguy, Gaëlle ^b   Rozet, Jean Michel ^b   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AGE OF ONSET; ALLELES; BLINDNESS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC LINKAGE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 33747431965     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (8)

1. Kaplan, J., Bonneau, D., Frezal, J., Munnich, A., Dufier, J.L., 1990, Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 86:635-42.
2. Perrault, I., Rozet, J.M., Ghazi, I., Leowski, C., Bonnemaison, M., Gerber, S., Ducroq, D., Cabot, A., Souied, E., Dufier, J.L., Munnich, A., Kaplan, J. 1999. Different functional outcome of retGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet 64:1225-8.
3. Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., Munier, F., Santos, L., Shalev, S., Zafeiriou, D., Dufier, J.L., Munnich, A., Rozet, J.M., Kaplan, J., 2004, 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 23(4):306-17.
4. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.L., Munnich, A., Kaplan, J., Rozet, J.M., 2004, Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet 75(4):639-46.
5. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Dufier, J-L., Munnich, A., Rozet, J-M., Kaplan, J., 2003, Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygote null allele. J Med Genet 40:E90.
6. Hanein, S., Perrault, I., Olsen, P., Lopponen, T., Hietala, M., Gerber, S., Jeanpierre, M., Barbet, F., Ducroq, D., Hakiki, S., Munnich, A., Rozet, J.M., Kaplan, J., 2002, Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum Mutat 20:322-3.
7. Rozet J.M., Perrault I., Gerber S., Hanein S., Barbet F., Ducroq D., Souied E., Munnich A., Kaplan J. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2.
8. Perrault, I., Hanein, S., Gerber, S., Lebail, B., Vlajnik, P., Barbet, F., Dufier, J-L., Munnich, A., Kaplan, J. and Rozet, J-M., 2005, A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype. Hum Mutat in press.