title: Refined genetic and physical mapping of BPES type II.
abstract: BPES is a genetic disorder including blepharophimosis, ptosis of the eyelids, epicanthus inversus and telecanthus. Type I is associated with female infertility, whereas type II presents without other symptoms. Both types I and II occur sporadically or are inherited as an autosomal dominant trait. We present a molecular genetic and cytogenetic study in a large four-generation Belgian family with BPES type II. Karyotype analysis on high-resolution banded chromosomes yielded normal results. Fluorescence in situ hybridization (FISH) with cosmid probes spanning 3q22-q24 revealed normal hybridization patterns. Sixteen polymorphic CA repeats encompassing region 3q13-q25 were analysed. Linkage analysis in this large four-generation family provides conclusive evidence for the presence of a BPES gene in this region. Two-point lod scores greater than 3.0 between the disease and the following markers were seen: D3S1589 (4.67), D3S1292 (3.52), D3S1290 (3.59) and D3S1549 (3.65). By FISH, D3S1290, D3S1292 and D3S1549 were assigned to chromosome 3q23 using YACs positive for these markers.
authors.affiliation: Centre for Medical Genetics, University Hospital, Gent, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Messiaen
authors.forename: B P
authors.initials: BP
authors.lastname: Leroy
authors.forename: S
authors.initials: S
authors.lastname: De Bie
authors.forename: K
authors.initials: K
authors.lastname: De Pauw
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: F
authors.initials: F
authors.lastname: Speleman
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
mesh_terms: D001530:Belgium; D016569:Blepharophimosis / Q000145:classification / Q000235:genetics*; D002871:Chromosome Banding; D018244:Chromosomes, Artificial, Yeast; D002893:Chromosomes, Human, Pair 3; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D012177:Retinol-Binding Proteins / Q000235:genetics; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D012177:Retinol-Binding Proteins