Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 3, 2007, Pages 1276-1282

  Kondo, Hiroyuki ^a   Qin, Minghui ^b   Kusaka, Shunji ^c   Tahira, Tomoko ^b   Hasebe, Haruyuki ^d   Hayashi, Hideyuki ^a   Uchio, Eiichi ^a   Hayashi, Kenshi ^b  

^a FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d HIROSHIMA PREFECTURAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; EYE PROTEIN; NDP PROTEIN, HUMAN; NERVE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; EXUDATE; FAMILIAL DISEASE; FAMILIAL EXUDATIVE VITREORETINOPATHY; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMAN; INFANT; JAPANESE; LEUKOCYTE; MALE; MUTATIONAL ANALYSIS; NORRIE DISEASE; NORRIE DISEASE GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA BLOOD VESSEL; VASCULAR DISEASE; VITREORETINOPATHY; X CHROMOSOME INACTIVATION; ADOLESCENT; ASIAN; BLINDNESS; CHILD; ETHNOLOGY; GENETICS; HEARING IMPAIRMENT; JAPAN; MENTAL DEFICIENCY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RETINA DISEASE; X CHROMOSOME;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLINDNESS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXUDATES AND TRANSUDATES; EYE PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; JAPAN; MALE; MENTAL RETARDATION; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINAL DISEASES; VITREORETINOPATHY, PROLIFERATIVE; X CHROMOSOME INACTIVATION;

EID: 34047259670     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-1042     Document Type: Article

References (52)

1. Warburg M. Norrie's disease. Birth Defects Orig Artic Ser. 1971;7:117-124.
2. Chen ZY, Hendriks RW, Jobling MA, et al. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet. 1992;1:204-208.
3. Berger W, Meindl A, van de Pol TJ, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet. 1992;2:84.
4. Meindl A, Berger W, Meitinger T, et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet. 1992;2:139-143.
5. Meitinger T, Meindl A, Bork P, et al. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet. 1993;5:376-380.
6. Chen ZY, Battinelli EM, Hendriks RW, et al. Norrie disease gene: characterization of deletions and possible function. Genomics. 1993;16:533-535.
7. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578-594.
8. Tasman W, Augsburger JJ, Shields JA, Caputo A, Annesley WH, Jr. Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc. 1981;79:211-226.
9. Mukai S, Mukai E, Puliafito CA. Familial exudative vitreoretinopathy. In: Berson EL, D'Amico DJ, Schepens CL, eds. Principles and Practice of Ophthalmology. Philadelphia: WB Saunders; 1994;813-817.
10. Canny CL, Oliver GL. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol. 1976;94:1114-1120.
11. de Crecchio G, Simonelli F, Nunziata G, et al. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet. 1998;54:315-320.
12. Fullwood P, Jones J, Bundey S, et al. X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br J Ophthalmol. 1993;77:168-170.
13. Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002;32:326-330.
14. Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol. 2003;87:1291-1295.
15. Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004;74:721-730.
16. Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet. 2004;75:878-884.
17. Xu Q, Wang Y, Dabdoub A, et al. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004;116:883-895.
18. Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993;5:180-183.
19. Berger W, Ropers HH. Norrie disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill. 2001;5977-5985.
20. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, et al. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Mol Vis. 2005;11:705-712.
21. Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM. Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. Arch Ophthalmol. 1994;112:1574-1579.
22. Wong P, MacDonald IM, Sood R, et al. Identification and partial characterization of a candidate gene for X-linked retinopathies using a lateral approach. Genomics. 1993;15:467-471.
23. Perez-Vilar J, Hill RL. Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix. J Biol Chem. 1997;272:33410-33415.
24. Royer G, Hanein S, Raclin V, et al. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. 2003;22:499.
25. Black GC, Perveen R, Bonshek R, et al. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum Mol Genet. 1999;8:2031-2035.
26. Shastry BS, Pendergast SD, Hartzer MK, Liu X, Trese MT. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch Ophthalmol. 1997;115:651-655.
27. Hutcheson KA, Paluru PC, Bernstein SL, et al. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol Vis. 2005;11:501-508.
28. Kondo H, Tahira T, Hayashi H, Oshima K, Hayashi K. Microsatellite genotyping of post-PCR fluorescently labeled markers. Biotechniques. 2000;29:868-872.
29. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992;51:1229-1239.
30. Hendriks RW, Chen ZY, Hinds H, Schuurman RK, Craig IW. An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the monoamine oxidase A gene. Hum Mol Genet. 1992;1:662.
31. Rehm HL, Zhang DS, Brown MC, et al. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci. 2002;22:4286-4292.
32. Johnson K, Mintz-Hittner HA, Conley YP, Ferrell RE. X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. Clin Genet. 1996;50:113-115.
33. Mintz-Hittner HA, Ferrell RE, Sims KB, et al. Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin. Ophthalmology. 1996;103:2128-2134.
34. Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics. 1995;27:341-344.
35. Shastry BS, Hejtmancik JF, Trese MT. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat. 1997;9:396-401.
36. Torrente I, Mangino M, Gennarelli M, et al. Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. Am J Med Genet. 1997;72:242-244.
37. McDonald NQ, Hendrickson WA. A structural superfamily of growth factors containing a cystine knot motif. Cell. 1993;73:421-424.
38. Martoglio B, Dobberstein B. Signal sequences: more than just greasy peptides. Trends Cell Biol. 1998;8:410-415.
39. Fuchs S, Xu SY, Caballero M, et al. A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. Hum Mol Genet. 1994;3:655-656.
40. Yamada K, Limprasert P, Ratanasukon M, et al. Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. Am J Med Genet. 2001;100:52-55.
41. Rivera-Vega MR, Chinas-Lopez S, Vaca AL, et al. Molecular analysis of the NDP gene in two families with Norrie disease. Acta Ophthalmol Scand. 2005;83:210-214.
42. Shastry BS. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. Biochem Biophys Res Commun. 1998;246:35-38.
43. Hatsukawa Y, Nakao T, Yamagishi T, Okamoto N, Isashiki Y. Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family. Br J Ophthalmol. 2002;86:1452-1453.
44. Allen RC, Russell SR, Streb LM, Alsheikheh A, Stone EM. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. Eye. 2006;20:234-241.
45. Fuentes JJ, Volpini V, Fernandez-Toral F, Coto E, Estivill X. Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families. Hum Mol Genet. 1993;2:1953-1955.
46. Zaremba J, Feil S, Juszko J, et al. Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene. Ophthalmic Genet. 1998;19:157-164.
47. Chen ZY, Battinelli EM, Woodruff G, et al. Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. Hum Mol Genet. 1993;2:1727-1729.
48. Sims KB, Irvine AR, Good WV. Norrie disease in a family with a manifesting female carrier. Arch Ophthalmol. 1997;115:517-519.
49. Shastry BS, Hiraoka M, Trese DC, Trese MT. Norrie disease and exudative vitreoretinopathy in families with affected female carriers. Eur J Ophthalmol. 1999;9:238-242.
50. Puck JM, Willard HF. X inactivation in females with X-linked disease. N Engl J Med. 1998;338:325-328.
51. Gribnau J, Luikenhuis S, Hochedlinger K, Monkhorst K, Jaenisch R. X chromosome choice occurs independently of asynchronous replication timing. J Cell Biol. 2005;168:365-373.
52. Ross MT, Grafham DV, Coffey AJ, et al. The DNA sequence of the human X chromosome. Nature. 2005;434:325-337.