A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

European Journal of Human Genetics

Volumn 11, Issue 12, 2003, Pages 966-971

  Barbet, Fabienne ^a   Gerber, Sylvie ^a   Hakiki, Sélim ^a   Perrault, Isabelle ^a   Hanein, Sylvain ^a   Ducroq, Dominique ^a   Tanguy, Gaëlle ^a   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Rozet, Jean Michel ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

8q21 q22; Homozygosity mapping; Isolated autosomal recessive optic atrophy; ROA1

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 8Q; CHROMOSOME ARM; CHROMOSOME MAP; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA FLANKING REGION; ETHNOLOGY; FAMILY HISTORY; FEMALE; FRANCE; GENE ISOLATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HOMOZYGOSITY; HUMAN; HUMAN GENOME; MALE; PATHOGENESIS; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; OPTIC ATROPHY; PEDIGREE;

EID: 0346025678     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201070     Document Type: Article

References (15)

1. Kaplan J, Rozet JM: Encyclopedia of the human genome; in Macmillan Publishers Ltd, Nature Publishing Group. Hereditary visual disorders, Chapter 510 2003, pp 1-12.
2. François J: Affections du nerf optique; in Masson (eds). L'hérédité en ophtalmologie. Paris, 1958, pp 581-606.
3. Merin S: Inherited diseases of the optic nerve; in Dekker M (eds). Inherited eye diseases, diagnosis and clinical management. New York, 1991, pp 323-344.
4. Moller HU: Recessively inherited, simple optic atrophy - does it exist [Letter]. Ophthal Paediatr Genet 1992; 13: 31-32.
5. Dib C, Faure S, Fizames C et al: A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996; 380: 152-154.
6. Lathrop GM, Lalouel JM: Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36: 460-465.
7. Lander ES, Botstein D: Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987; 236: 1567-1570.
8. Fraser GR, Friedmann AI: The causes of blindness in childhood. A study of 776 children with severe visual handicaps. Baltimore, MD, Johns Hopkins Press, 1967.
9. Dryja TP, McGee TL, Hahn LB et al: Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N 1990; 323: 1302-1307.
10. Rosenfeld FJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP: A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992; 1: 209-213.
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. Kelsell RE, Gregory-Evans K, Payne AM et al: Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet 1998; 7: 1179-1184.
13. Freund CL, Gregory-Evans CY, Furukawa T et al: Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997; 91: 543-553.
14. Freund CL, Wang Q-L, Chen S et al: De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis? [Letter]. Nat Genet 1998; 18: 311-312.
15. Birch-Machin MA, Taylor RW, Cochran B et al: Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol 2000; 48: 330-335.