A locus for autosomal dominant posterior polar cataract on chromosome 1p

Human Molecular Genetics

Volumn 6, Issue 1, 1997, Pages 47-51

  Ionides, Alexander C W ^b   Berry, Vanita ^b   Mackay, Donna S ^b   Moore, Anthony T ^a   Bhattacharya, Shomi S ^b   Shiels, Alan ^b  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHROMOSOME 1P; CHROMOSOME MAP; CONGENITAL CATARACT; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; PRIORITY JOURNAL;

CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; EYE; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; PEDIGREE;

EID: 0031021393     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.1.47     Document Type: Article

References (32)

1. Lund,A.M., Eiberg,H., Rosenberg,T. and Warburg,M. (1992) Autosomal dominant congenital cataract; linkage relations: clinical and genetic heterogeneity. Clin. Genet., 41, 65-69.
2. Francois,J. (1982) Genetics of cataract. Ophthalmoligica, 184, 61-71.
3. Scott,M.H., Hejtmancik,J.F.,Wozencraft, L.A., Reuter,L.M., Parks,M.M. and Kaiser-Kupfer, M.I. (1994) Autosomal dominant congenital cataract - interocular phenotypic variability. Ophthalmology, 101, 866-871.
4. Ionides,A.C.W., Berry,V., Moore,A.T., Bhattacharya,S.S. and Shiels,A. (1996) Clinical and genetic heterogeneity of autosomal dominant cataract. Acta. Ophthalmol., 74, S219, 40-41.
5. Eiberg,H., Lund,A.M., Warburg,M. and Rosenberg,T. (1995) Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum. Genet., 96, 33-38.
6. Renwick,J.H. and Lawler,S.D. (1963) Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann. Hum. Genet., 27, 67-84.
7. Brakenhoff,R.H., Henskens,H.A.M., van Rossum,M.W.P.C., Lubsen,N.H. and Schoenmakers,J.G.G. (1994) Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum. Mol. Genet., 3, 279-283.
8. Rogaev,E.I., Rogaeva,E.A., Korovaitseva,G.I., Farrar,L.A., Petrin,A.N., Keryanov,S.A., Turaeva,S., Chumakov,I., St. George-Hyslop,P. and Ginter,E.K. (1996) Linkage of polymorphic congenital cataract to the γ-crystallin gene locus on human chromosome 2q33-35. Hum. Mol. Genet., 5, 699-703.
9. Maumenee,I.H. (1979) Classification of hereditary cataracts in children by linkage analysis. Ophthalmol., 86, 1554-1558.
10. Richards,J., Maumenee,I.H., Rowe,S. and Lovrien,E.W. (1984) Congenital cataract possibly linked to haptoglobin. Cytogenet. Cell Genet., 37, 570.
11. Marner,E., Rosenberg,T. and Eiberg,H. (1989) Autosomal dominant congenital cataract: morphology and genetic mapping. Acta. Ophthalmol., 67, 151-158.
12. Berry,V., Ionides,A.C.W., Moore,A.T., Plant,C., Bhattacharya,S.S. and Shiels,A. (1996) A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum. Mol. Genet., 5, 415-419.
13. Padma,T., Ayyagari,R. Murty,J.S., Basti,S., Fletcher,T., Rao,G.N., Kaiser-Kupfer,M. and Hejtmancik,JF. (1995) Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am. J. Hum. Genet., 57, 840-845.
14. Armitage,M.M., Kivlin,J.D. and Ferell,R.E. (1995) A progressive early onset cataract gene maps to human chromosome 17q24. Nature Genet., 9, 37-40.
15. Kramer,P., Yount, J., Mitchell,T., LaMorticella,D., Carrero-Valenzuela, R., Lovrien, E., Maumenee,I. and Litt,M. (1996) A second locus for cerulean cataract maps to the β crystallin region on chromosome 22. Genomics 35, 539-542.
16. Cartier,M., Breitman,M.L. and Tsui,L-C. (1992) A frameshift mutation in the γE-crystallin gene of the Elo mouse. Nature Genet., 2, 42-45.
17. Chambers,C. and Russell,P. (1991) Deletion mutation in an eye lens β-crystallin. J Biol Chem., 266, 6742-6746.
18. Shiels,A. and Bassnett,S. (1996) Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nature Genet., 12, 212-215.
19. Rodriguez,I.R., Gonzalez,P., Zigler,J.S. and Borras,T. (1992) A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene. Biochim. Biophys. Acta., 1180, 44-52.
20. Klein,B.E.K., Klein,R. and Linton,K.L.P. (1992) Prevalence of age-related lens opacities in a population. Ophthalmology, 99, 546-552.
21. Ragge, N.K., Baser,M.E., Klein,J., Nechiporuk,A., Sainz,J., Pulst,S.M. and Riccardi,V.M. (1995) Ocular abnormalities in neurofibromatosis 2. Am. J. Ophthalmol., 120, 634-641.
22. Heckenlively,J.R. (1982) The frequency of posterior subcapsular cataract in hereditary retinal degenerations. Am. J. Ophthalmol., 93, 733-738.
23. Eshaghian,J. and Streeten,B.W. (1980) Human posterior subcapsular cataract. Arch. Ophthalmol., 98, 134-143.
24. Eshagian,J., Rafferty,N.S. and Goossens,W. (1980) Ultrastructure of human cataract in retinitis pigmentosa. Arch. Ophthalmol., 98, 2227-2230.
25. Nagata,M., Matsuura,H. and Fujinaga,Y. (1986) Ultrastructure of posterior subcapsular cataract in human lens. Ophthalmic Res., 18, 180-184.
26. Dib, C., Faure, S., Fizames, C., Samson,D., Drouot,N., Vignal,A., Millasseau,P., Marc,S., Hazan,J., Seboun,E., Lathrop,M., Gyapay,G., Morissett,J. and Weissenbach,J. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 380, 152-154.
27. Murray,J.C., Buetow,K.H., Weber,J.L., Ludwigsen,S., Scherpbier-Heddema,T., Manion,F., Quillen,J.,Sheffield,V.C., Sunden,S., Duyk,G.M., Weissenbach,J., Gyapay,G., Dib, C., Morissett,J., Lathrop,M., Vignal,A., White,R., Matsunami,N., Gerken,S., Melis,R., Albertsen,H., Plaetke,R., Odelberg,S., Ward,D., Dausset., Cohen,D. and Cann,H. (1994) A comprehensive human linkage map with centimorgan density. Science, 265, 2049-2054.
28. Heinzmann,C., Kojis,T.L., Gonzalez,P., Rao,P.V., Zigler,J.S., Polymeropoulos,M.H., Klisak,I., Sparkes,R.S., Mohandas,T. and Bateman,J.B. (1994) Assignment of the ζ-crystallin gene (CRYZ) to human chromosome 1p22-31 and identification of restriction fragment length polymorphisms. Genomics, 23, 403-407.
29. Wistow,G., Lietman, T. and Williams,L.A. (1988) τ-Crystallin/α-enolase: One gene encodes both an enzyme and a lens structural protein. J Cell Biol., 107, 2729-2736.
30. Lachant,N.A., Jennings,M.A. and Tanaka,K.R. (1986) Partial erythrocyte enolase deficiency: a hereditary disorder with variable clinical expression. Blood, 68, 55a.
31. Attwood,J. and Bryant,S.A. (1988) A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Am. J. Hum. Genet., 52, 259.
32. Lathrop,G.M., Lalouel,J.M., Julier,C. and Ott,J. (1984) Strategies for multipoint linkage analysis in humans. Proc. Natl. Acad. Sci. USA, 81, 3443-3446.