Abstract
The Norrie's disease gene has been accurately located on the short arm of the X chromosome. The methodology underlying this achievement and the structure of the three-exon gene is described in this review article. The clinical implications of these recent advances are discussed. Allelic variants of Norrie's disease and the phenomenon of females affected by X-linked disease are also discussed.
Similar content being viewed by others
Article PDF
References
McKusick V . Mendelian inheritance in man, vol 10. Baltimore and London: Johns Hopkins University Press, 1992.
Norrie G . Causes of blindness in children. Acta Ophthalmol (Copenh) 1927;5:357–86.
Redmond R, Vaughan J, Jay M, Jay B . In utero diagnosis of Norrie disease by ultrasonography. Ophthalmic Paediatr Genet 1993;141:1–3.
Warburg M . Norrie's disease, a congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol Suppl (Copenh) 1966;89:1–149.
Gal A, Bleeker-Wagemakers EM, Wienker TF, Warburg M, Ropers HH . Localisation of the gene for Norrie disease by linkage to the DXS7 locus [abstract]. Cytogenet Cell Genet 1985;40:633.
de la Chapelle A, Sankila E-M, Lindlof M, Aula P, Norio R . Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet 1985;28:317–20.
Sims KB, de la Chapelle A, Norio R, Sankila E-M, Hsu Y-P, Rinehart WB, et al. Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron 1989;2:1069–76.
Sims KB, Lebo RV, Benson G, Shalisk C, Schuback D, Chen Z-Y, et al. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. Hum Molec Genet 1992;1:83–9.
Collins FS . Positional cloning: let's not call it reverse anymore. Nature Genet 1992;1:3–6.
Berger W, Meindl A, van de Pol TJR, Cremers FPM, Ropers HH, Doerner C, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet 1992;1:199–203.
Chen Z-Y, Sims SB, Coleman M, Monaco A, Breakefield XO, Davies KE, Craig IW . Characterization of a YAC containing part or all of the Norrie disease locus. Hum Molec Genet 1992;1:161–4.
Meindl A, Berger W, Meitinger T, van den Pol D, Achatz H, Dorner C, et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Hum Molec Genet 1992;2:139–43.
Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haase-mann M, Murken J . Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nature Genet 1993;5:376–80.
Lyon MF . Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961;190:372.
Chen Z-Y, Battinelli EM, Woodruff G, Young I, Breakefield XO, Craig IW . Characterisation of a mutation within the NDP gene in a family with a manifesting female carrier. Hum Mol Genet 1993;2:1727–9.
Ohba N, Yamashita T . Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation. Br J Ophthalmol 1986;70:64–71.
Schmidt M, Du Sart D . Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet 1992;42:161–9.
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW . X-linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br J Ophthalmol 1992;77:168–70.
Ravia Y, Braier-Goldstein O, Bat-Miriam KM, Erlich S, Barkai G, Golman B . X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. Hum Mol Genet 1993;2:1295–7.
Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB, Craig IW . Mutations in the Norrie gene associated with FEVR. Nature Genet 1993;1:204–8.
Inglehearn CF, Keen JT, Bashir R, Jay M, Fitzke F, Bird AC, et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Molec Genet 1992;1:41–5.
Rosenfeld PJ, 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. Nature Genet 1992;1:209–13.
Dryja TP, Berson EL, Rao, VR, Opsian DD . Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nature Genet 1993;4:280–3.
Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, et al. A three base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991;354:480–3.
Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet 1993;3:213–8.
Kajiwara K, Sandberg MA, Berson EL, Dryja TP . A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet 1993;3:208–12.
Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM . Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet 1993;3:202–7.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Black, G., Redmond, R. The molecular biology of Norrie's disease. Eye 8, 491–496 (1994). https://doi.org/10.1038/eye.1994.124
Issue Date:
DOI: https://doi.org/10.1038/eye.1994.124