title: A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.
abstract: We report a new locus for familial exudative vitreoretinopathy (FEVR), on chromosome 11p12-13 in a large autosomal dominant pedigree. Statistically significant linkage was achieved across a 14-cM interval flanked by markers GATA34E08 and D11S4102, with a maximum multipoint LOD score of 6.6 at D11S2010. FEVR is a disease characterized by the failure of development of peripheral retinal blood vessels, and it is difficult to diagnose clinically because of the wide spectrum of fundus abnormalities associated with it. The identification of a new locus is important for genetic counseling and potentiates further studies aimed toward the identification of a gene with an important role in angiogenesis within neuroepithelial tissues. Such a gene may also have a role in the genetic predisposition to retinopathy of prematurity, a sporadic disorder with many clinical similarities to FEVR.
authors.affiliation: Molecular Medicine Unit, Saint James's University Hospital, Leeds, LS9 7TF, United Kingdom.
authors.forename: L M
authors.initials: LM
authors.lastname: Downey
authors.forename: T J
authors.initials: TJ
authors.lastname: Keen
authors.forename: E
authors.initials: E
authors.lastname: Roberts
authors.forename: D C
authors.initials: DC
authors.lastname: Mansfield
authors.forename: M
authors.initials: M
authors.lastname: Bamashmus
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics* / Q000473:pathology
chemical_list: D005819:Genetic Markers