GDF6, a novel locus for a spectrum of ocular developmental anomalies

American Journal of Human Genetics

Volumn 80, Issue 2, 2007, Pages 306-315

  Asai Coakwell, Mika ^a   French, Curtis R ^a   Berry, Karyn M ^a   Ye, Ming ^a   Koss, Ron ^a   Somerville, Martin ^a   Mueller, Rosemary ^a   Van Heyningen, Veronica ^b   Waskiewicz, Andrew J ^a   Lehmann, Ordan J ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; MORPHOLINE DERIVATIVE;

ANIMAL TISSUE; ANOPHTHALMIA; ARTICLE; CASE REPORT; CHORIORETINAL COLOBOMA; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; COLOBOMATA; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; EYE DEVELOPMENT; EYE MALFORMATION; FEMALE; GDF6 GENE; GDF6A GENE; GENE; GENE FUNCTION; GENE LOCUS; GENE REPRESSION; GENOME; GENOTYPE PHENOTYPE CORRELATION; HOMOLOGOUS RECOMBINATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MICROPHTHALMIA; MOUSE; NONHOMOLOGOUS END JOINING RECOMBINATION; NONHUMAN; PRIORITY JOURNAL; RETINA DISEASE; XENOPUS;

EID: 33846622730     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/511280     Document Type: Article

References (53)

1. Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41:881-891
2. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, et al (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 76:1008-1022
3. Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M (2003) Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A 116:215-221
4. Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, et al (2002) Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 11:33-42
5. Ferda Percin E, Ploder LA, YuJJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, et al (2000) Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 25:397-401
6. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957
7. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, et al (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78:303-314
8. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656-663
9. Toker E, Elcioglu N, Ozcan E, Yenice O, Ogut M (2003) Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree. Am J Med Genet A 121:25-30
10. Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ (2001) Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 101:114-119
11. Porges Y, Gershoni-Baruch R, Leibu R, Goldscher D, Zonis S, Shapira I, Miller B (1992) Hereditary microphthalmia with colobomatous cyst. Am J Ophthalmol 114:30-34
12. Morlé L, Bozon M, Zech J-C, Alloisio N, Raas-Rothschild A, Philippe C, Lambert J-C, Godet J, Plauchu H, Edery P (2000) A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet 67:1592-1597
13. Barros-Nunez P, Medina C, Mendoza R, Sanchez-Corona J, Garcia-Cruz D (1995) Unexpected familial recurrence of iris coloboma: a delayed mutation mechanism? Clin Genet 48:160-161
14. Eccles MR, Schimmenti LA (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet 56:1-9
15. Nixon J, Oldridge M, Wilkie AO, Smith K (1997) Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. Am J Med Genet 70:324-327
16. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butté C, Memo L, Capovilla G, Neri G (2003) Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72:590-597
17. Morrison DA, FitzPatrick DR, Fleck BW (2002) Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). Br J Ophthalmol 86:1316
18. McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE (1998) Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 81:222-228
19. Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT (1996) Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 33:772-778
20. Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW (2000) Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 67:1382-1388
21. Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19:140-147
22. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, et al (2001) The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27:159-166
23. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, et al (2003) Mutations in SOX2 cause anophthalmia. Nat Genet 33:461-463
24. Zhou E, Grimes P, Favor J, Koeberlein B, Pretsch W, Neuhauser-Klaus A, Sidjanin D, Stambolian D (1997) Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4. Mamm Genome 8:178-181
25. Wang KS, Zahn LE, Favor J, Huang KM, Stambolian D (2005) Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development. Mamm Genome 16:332-343
26. Speicher MR, Gwyn Ballard S, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12:368-375
27. Selzer RR, Richmond TA, Pofahl NJ, Green RD, Eis PS, Nair P, Brothman AR, Stallings RL (2005) Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 44:305-319
28. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
29. Schwartz S, Zhang Z, Frazer KA, Smit A, Riemer C, Bouck J, Gibbs R, Hardison R, Miller W (2000) PipMaker-a web server for aligning two genomic DNA sequences. Genome Res 10:577-586
30. Prince VE, Moens CB, Kimmel CB, Ho RK (1998) Zebrafish hox genes: expression in the hindbrain region of wild-type and mutants of the segmentation gene, valentino. Development 125:393-406
31. Davidson AJ, Postlethwait JH, Yan YL, Beier DR, van Doren C, Foernzler D, Celeste AJ, Crosier KE, Crosier PS (1999) Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily. Genome Res 9:121-129
32. Rissi M, Wittbrodt J, Delot E, Naegeli M, Rosa FM (1995) Zebrafish radar: a new member of the TGF-beta superfamily defines dorsal regions of the neural plate and the embryonic retina. Mech Dev 49:223-234
33. Hall CJ, Flores MV, Davidson AJ, Crosier KE, Crosier PS (2002) Radar is required for the establishment of vascular integrity in the zebrafish. Dev Biol 251:105-117
34. Sidi S, Goutel C, Peyrieras N, Rosa FM (2003) Maternal induction of ventral fate by zebrafish radar. Proc Natl Acad Sci USA 100:3315-3320
35. Langheinrich U, Hennen E, Stott G, Vacun G (2002) Zebrafish as a model organism for the identification and characterization of drugs and genes affecting p53 signaling. Curr Biol 12:2023-2028
36. Waskiewicz AJ, Rikhof HA, Moens CB (2002) Eliminating zebrafish pbx proteins reveals a hindbrain ground state. Dev Cell 3:723-733
37. Chang C, Hemmati-Brivanlou A (1999) Xenopus GDF6, a new antagonist of noggin and a partner of BMPs. Development 126:3347-3357
38. Stoll C, Alembik Y, Dott B, Roth MP (1997) Congenital eye malformations in 212,479 consecutive births. Ann Genet 40:122-128
39. Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee SJ (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily. Nature 368:639-643
40. Wolfman NM, Hatteisley G, Cox K, Celeste AJ, Nelson R, Yamaji N, Dube JL, DiBlasio-Smith E, Nove J, Song JJ, et al (1997) Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family. J Clin Invest 100:321-330
41. Huillard E, Laugier D, Marx M (2005) Defects in chicken neuroretina misexpressing the BMP antagonist Drm/Gremlin. Dev Biol 283:335-344
42. Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, Hastie ND (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86:71-82
43. Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BL, John SW (2000) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet 9:1021-1032
44. Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, et al (2001) A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet 68:364-372
45. Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, et al (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci 43:1843-1849
46. Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, et al (2000) Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet 67:1129-1135
47. Settle SH Jr, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM (2003) Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev Biol 254:116-130
48. Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM (2002) Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. AmJ Hum Genet 71:618-624
49. Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, et al (2005) Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 77:966-987
50. Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR (2006) Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15:2250-2265
51. Wadman M (2006) Medical research: them and us no longer. Nature 439:779-780
52. Varki A, Holmes E, Yamada T, Agre P, Brenner S (2006) Physician-scientists are needed now more than ever. Nature 440:740
53. Hanel ML, Hensey C (2006) Eye and neural defects associated with loss of GDF6. BMC Dev Biol 6:43