title: Blepharophimosis syndrome is linked to chromosome 3q.
abstract: Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal dominant inheritance and have tested for linkage with 17 polymorphic markers on 3q. Multipoint analysis generated a maximum LOD score of 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non-cytogenetic evidence that a defective gene responsible for BPES is located on 3q22.
authors.affiliation: Jules Stein Eye Institute, University of California, Los Angeles, USA.
authors.forename: K W
authors.initials: KW
authors.lastname: Small
authors.forename: M
authors.initials: M
authors.lastname: Stalvey
authors.forename: L
authors.initials: L
authors.lastname: Fisher
authors.forename: L
authors.initials: L
authors.lastname: Mullen
authors.forename: C
authors.initials: C
authors.lastname: Dickel
authors.forename: K
authors.initials: K
authors.lastname: Beadles
authors.forename: R
authors.initials: R
authors.lastname: Reimer
authors.forename: A
authors.initials: A
authors.lastname: Lessner
authors.forename: K
authors.initials: K
authors.lastname: Lewis
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004276:DNA, Satellite; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers