Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy

European Journal of Human Genetics

Volumn 12, Issue 1, 2004, Pages 79-82

  Shastry, B S ^a   Trese, M T ^b  

^a OAKLAND UNIVERSITY   (United States)

^b WILLIAM BEAUMONT HOSPITAL   (United States)

Author keywords

Digenic; Exudative; Factor V; Leiden; Mutation; Vitreoretinopathy

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; FRIZZLED PROTEIN; FRIZZLED PROTEIN 4; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; EYE DISEASE; FAMILIAL DISEASE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; PENETRANCE; PRIORITY JOURNAL; RETINA; VITREORETINOPATHY; VITREOUS BODY;

ALLELES; DNA MUTATIONAL ANALYSIS; FACTOR V; FEMALE; GENES, DOMINANT; HUMANS; MALE; PEDIGREE; PROTEINS; VITREORETINOPATHY, PROLIFERATIVE;

EID: 0842345541     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201093     Document Type: Article

References (18)

1. Shastry BS, Hiraoka M: Molecular genetics of familial exudative vitreoretinopathy and Norrie disease. Curr Genomics 2000; 1: 259-269.
2. Van Nouhuys CE: Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. Doc Ophthalmol 1982; 54: 1-414.
3. Plager DA, Orgel IK, Ellis FD, Hartzer MK, Trese MT, Shastry BS: X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol 1992; 114: 145-148.
4. Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatric MW: X-linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br J Ophthalmol 1993; 77: 168-170.
5. Shastry BS, Trese MT: Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet 1997; 69: 217-218.
6. De Crecchio G, Simonelli F, Mazzeo S et al: Autosomal recessive familial exudative vitreoretinopathy. Clin Genet 1998; 54: 315-320.
7. Robitaile J, MacDonald MLE, Kaykas A et al: Mutant frzzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002; 32: 326-330.
8. Chen Z-Y, Bettinelli EM, Fielder A et al: A mutation in the Norrie disease gene associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993; 5: 180-182.
9. 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.
10. Shastry BS, Liu X, Hejtmancik JF, Plager DA, Trese MT: Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. Genomics 1997; 44: 247-248.
11. Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF: A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet 2001; 68: 778-781.
12. Kleinberg S, Garrant S, Tillen T, Trese MT, Shastry BS: Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity (ROP). Int J Mol Med 2003; 12: 469-472.
13. Mintz-Hittner HA, Miyashiro MJ, Knignht-Nanan KM, O'Malley RE, Marlar RA: Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency. Ophthalmology 1999; 106: 1525-1530.
14. Hvarfner C, Hillarp A, Larsson J: Influence of factor V Leiden on the development of neovascularization secondary to central retinal vein occlusion. Br J Ophthalmol 2003; 87: 305-306.
15. Kajawara K, Berson EL, Dryja TP: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM 1 loci. Science 1994; 264: 1604-1608.
16. Savage DB, Agostini M, Barroso I et al: Digenic inheritance of severe insulin resistance in a human pedigree. Nat Genet 2002; 31: 379-384.
17. Ishikawa T, Tamai Y, Zorn AM, Yoshida H, Seldin MF, Nishikawa S: Mouse Wnt receptor gene FZDS is essential for yolk sac and placental angiogenesis. Development 2001; 128: 25-33.
18. Ming JE, Muenke M: Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002; 71: 1017-1032.