Familial Exudative Vitreoretinopathy and DiGeorge Syndrome. A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?

Ophthalmology

Volumn 116, Issue 8, 2009, Pages 1522-1524

  Gilmour, David F ^a   Downey, Louise M ^a   Sheridan, Eamonn ^b   Long, Vernon ^b   Bradbury, John ^c   Inglehearn, Chris F ^a   Toomes, Carmel ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c BRADFORD ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DIGEORGE SYNDROME; DISEASE ASSOCIATION; DISEASE COURSE; FAMILIAL DISEASE; FAMILIAL EXUDATIVE VITREORETINOPATHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; LASER COAGULATION; NEWBORN; OBSERVATIONAL STUDY; OPHTHALMOSCOPY; PARENT; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA EXAMINATION; SLIT LAMP; VITREORETINOPATHY;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; DNA MUTATIONAL ANALYSIS; EXUDATES AND TRANSUDATES; EYE DISEASES; FEMALE; FRIZZLED RECEPTORS; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; LDL-RECEPTOR RELATED PROTEINS; MICROSCOPY; OPHTHALMOSCOPY; RECEPTORS, G-PROTEIN-COUPLED; RETINAL NEOVASCULARIZATION; VITREOUS BODY;

EID: 67949102002     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2009.02.032     Document Type: Article

References (17)

1. Robin N.H., and Shprintzen R.J. Defining the clinical spectrum of deletion 22q11.2. J Pediatr 147 (2005) 90-96
2. Kobrynski L.J., and Sullivan K.E. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370 (2007) 1443-1452
3. Casteels I., Casaer P., Gewillig M., et al. Ocular findings in children with a microdeletion in chromosome 22q11.2. Eur J Pediatr 167 (2008) 751-755
4. Forbes B.J., Binenbaum G., Edmond J.C., et al. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS 11 (2007) 179-182
5. Shprintzen R.J. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14 (2008) 3-10
6. Jalali G.R., Vorstman J.A., Errami A., et al. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 29 (2008) 433-440
7. Yagi H., Furutani Y., Hamada H., et al. Role of TBX1 in human de122q11.2 syndrome. Lancet 362 (2003) 1366-1373
8. Lindsay E.A., Vitelli F., Su H., et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410 (2001) 97-101
9. Stalmans I., Lambrechts D., De Smet F., et al. VEGF: a modifier of the de122q11 (DiGeorge) syndrome?. Nat Med 9 (2003) 173-182
10. Toomes C., Bottomley H.M., Jackson R.M., et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 74 (2004) 721-730
11. Robitaille J., MacDonald M.L., Kaykas A., et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 32 (2002) 326-330
12. Chen Z.Y., Battinelli E.M., Fielder A., et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 5 (1993) 180-183
13. Downey L.M., Keen T.J., Roberts E., et al. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet 68 (2001) 778-781
14. Toomes C., Downey L.M., Bottomley H.M., et al. Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. Br J Ophthalmol 89 (2005) 194-197
15. Benson W.E. Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc 93 (1995) 473-521
16. Toomes C., and Downey L. Familial exudative vitreoretinopathy, autosomal dominant. GeneReviews. (rev) (December 11, 2008). http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fevr#fevr Accessed October 17, 2008
17. Kleinjan D.A., and van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76 (2005) 8-32