Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype

Ophthalmic Genetics

Volumn 17, Issue 4, 1996, Pages 187-191

  Caballero, M ^a,d   Veske, A ^a,e   Rodriguez, J J ^b   Lugo, N ^b   Schroeder, B ^c   Hesse, L ^c   Gal, A ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Centro Provincial de Retinosis Pigmentaria   (Cuba)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d Centro Internacional de Retinosis Pigmentaria   (Cuba)

^e UNIVERSITY OF TARTU   (Estonia)

Author keywords

Blindness; Gene mutation; Norrie disease; Norrin; Start codon; X chromosome

Indexed keywords

NORRIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BLINDNESS; CASE REPORT; CHILD; CHROMOSOME XP; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; INFANT; MALE; MENTAL DEFICIENCY; NORRIE DISEASE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA MALFORMATION; SCHOOL CHILD; START CODON; X CHROMOSOME LINKAGE;

EID: 0030446765     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819609057892     Document Type: Article

References (22)

1. Warburg M. Norrie's disease: a congenital progressive oculoacoustico-cerebral degeneration. Acta Ophthalmol (Suppl) 1966; 89: 1-147.
2. Norrie G. Cause of blindness in children. Acta Ophthalmol (Copenh) 1927; 5: 357-386.
3. Warburg M. Retinal malformations. Trans Ophthalmol Soc UK 1979; 99: 272-283.
4. Parving A, Warburg M. Audiological findings in Norrie's disease. Audiology 1977; 16: 124-131.
5. Bleeker-Wagemakers L, Friedrich U, Gal A, Wienker TF, Warburg M, Ropers HH. Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromer of the X chromosome. Hum Genet 1985; 71: 211-214.
6. Gal A, Stolzenberger C, Wienker T, Wieacker P, Ropers HH, Friedrich U, Bleeker-Wagemakers L, Pearson P, Warburg M. Norrie's disease; close linkage with genetic marker from the proximal short arm of the chromosome. Clin Genet 1985; 27: 282-283.
7. Gal A, Wieringa B, Smeets DFCM, Bleeker-Wagemakers L, Ropers HH. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenet Cell Genet 1986; 42: 219-224.
8. Berger W, Meindl A, Van de Pol TJR, Cremers FPM, Ropers HH, Dörner C, Monaco A, Bergen AAB, Lebo R, Warburg M, Zergollen L, Lorenz B, Gal A, Bleeker-Wagemakers EM, Meitinger T. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992; 1: 199-203.
9. Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Breakfield XO, Sims K, Craig IW. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet 1992; 1: 204-208.
10. Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haaseman M, Murker J. Molecular modelling of Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet 1993; 5: 376-380.
11. Berger W, Van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, De Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Mutations in the candidate gene for Norrie disease. Hum Mol Genet 1992; 1: 461-465.
12. Meindl A, Berger W, Meitinger T, Van de Pol D, Achatz H, Dörner C, Haaseman M, Hellebrand H, Gal A, Cremers FPM, Ropers HH. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet 1992; 2: 139-142.
13. Fuchs S, Xu SY, Caballero M, Salcedo M, La O A, Wedemann H, Gal A. A missense point mutation (Leu13Arg) of the Norrie disease in the large Cuban kindred with Norrie disease. Hum Mol Genet 1994; 3: 655-656.
14. Meindl A, Lorenz B, Achatz H, Hellebrand H, Schmitz-Valckenberg P, Meitinger T. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Hum Mol Genet 1995; 4: 489-490.
15. Schuback D, Chen Z-Y, Craig IW, Breakfield XO, Sims C. Mutations in the Norrie disease gene. Hum Mutat 1995; 5: 285-292.
16. Fuchs S, Van de Pol D, Beudt U, Kellner U, Wedemann H, Berger W, Gal A. Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. Hum Mutat 1996; 8: 85-88.
17. Isashiki Y, Ohba N, Yanagita T, Hokito N, Doi N, Nakagawa M, Ozawa M, Kuroda N. Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. Hum Mol Genet 1995; 95: 105-108.
18. Gal A, Veske A, Jojart G, Grammatico B, Huber B, Gu S, Del Porto G, Senyi K. Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype. Acta Ophthalmol Scand 1996; 74 (Suppl 219): 13-16.
19. Ravia Y, Braier-Goldstein O, Bat-Miriam KM, Erlich S, Barkai G, Goldman B. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. Hum Mol Genet 1993; 2: 1295-1297.
20. Chen Z-Y, Battinelli EM, Fielder A, Sims K, Breakfield XO, Craig IW. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993; 5: 180-183.
21. Fuchs S, Kellner U, Wedemann H, Gal A. Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy. Hum Mutat 1995; 6: 257-259.
22. Bunge S, Fuchs S, Gal A. Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. In: Adolph KW, editor. Methods in Molecular Genetics. Orlando, FL: Academic Press 1966; 26-39.