Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes

Molecular Vision

Volumn 17, Issue , 2011, Pages 1128-1135

  Yang, Huiqin ^a   Xiao, Xueshan ^a   Li, Shiqiang ^a   Mai, Guiying ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL EXUDATIVE VITREORETINOPATHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; OPTIC DISK; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA FOLD; RETINA MACULA LUTEA; SCHOOL CHILD; TSPAN12 GENE; VITREORETINOPATHY;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOPOROSIS; PEDIGREE; PHENOTYPE; VITREORETINOPATHY, PROLIFERATIVE;

EID: 79955599124     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969; 68:578-594.[PMID: 5394449]
2. Ober RR, Bird AC, Hamilton AM, Sehmi K. Autosomal dominant exudative vitreoretinopathy. Br J Ophthalmol 1980; 64:112-120. [PMID: 7362811]
3. van Nouhuys CE. Dominant exudative vitreoretinopathy. Ophthalmic Paediatr Genet 1985; 5:31-38. [PMID: 4058870]
4. Feldman EL, Norris JL, Cleasby GW. Autosomal dominant exudative vitreoretinopathy. Arch Ophthalmol 1983; 101:1532-1535. [PMID: 6626002]
5. Gow J, Oliver GL. Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol 1971; 86:150-155. [PMID:5571414]
6. de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet 1998; 54:315-20. [PMID: 9831343]
7. Shastry BS, Trese MT. Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet 1997; 69:217-218. [PMID: 9056564]
8. Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993; 5:180-183. [PMID:8252044]
9. Plager DA, Orgel IK, Ellis FD, Hartzer M, Trese MT, Shastry BS. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol 1992; 114:145-148. [PMID: 1642288]
10. Shastry BS, Hejtmancik JF, Hiraoka M, Ibaraki N, Okubo Y, Okubo A, Han DP, Trese MT. Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy. Clin Genet 2000; 58:329-332. [PMID:11076059]
11. Kondo H, Ohno K, Tahira T, Hayashi H, Oshima K, Hayashi K. Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis. Hum Genet 2001; 108:368-375. [PMID: 11409862]
12. 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. [PMID: 1307245]
13. Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dube MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002; 32:326-330. [PMID: 12172548]
14. 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. [PMID: 15346351]
15. Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004; 74:721-730. [PMID: 15024691]
16. Ye X, Wang Y, Nathans J. The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. Trends Mol Med 2010; 16:417-425. [PMID: 20688566]
17. Clevers H. Eyeing up new Wnt pathway players. Cell 2009; 139:227-229. [PMID: 19837026]
18. Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC. An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 2000; 407:535-538. [PMID: 11029008]
19. Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W. TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. Cell 2009; 139:299-311.[PMID: 19837033]
20. 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. [PMID: 14507768]
21. Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2004; 45:2083-2090. [PMID:15223780]
22. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat 2005; 26:104-112. [PMID:15981244]
23. Nallathambi J, Shukla D, Rajendran A, Namperumalsamy P, Muthulakshmi R, Sundaresan P. Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. Mol Vis 2006; 12:1086-1092. [PMID:17093393]
24. Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K. Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2007; 48:1276-1282. [PMID: 17325173]
25. Boonstra FN, van Nouhuys CE, Schuil J, de Wijs IJ, van der Donk KP, Nikopoulos K, Mukhopadhyay A, Scheffer H, Tilanus MA, Cremers FP, Hoefsloot LH. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2009; 50:4379-4385. [PMID: 19324841]
26. Jia LY, Li XX, Yu WZ, Zeng WT, Liang C. Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. Arch Ophthalmol 2010; 128:1341-1349.[PMID: 20938005]
27. Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010; 86:240-247. [PMID: 20159111]
28. Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Mutations in TSPAN12 cause autosomaldominant familial exudative vitreoretinopathy. Am J Hum Genet 2010; 86:248-253. [PMID: 20159112]
29. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7:248-249. [PMID: 20354512]
30. Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat 2010; 31:656-666. [PMID: 20340138]