title: Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.
abstract: van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate. The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping. We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hôpital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees. Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245. The innermost four markers were found to be tightly linked to one another, with no evidence for recombination. Our results support linkage of vWS within a region of tightly linked markers and do not favour locus heterogeneity of the disease trait.
authors.affiliation: Service de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Houdayer
authors.forename: V
authors.initials: V
authors.lastname: Soupre
authors.forename: M
authors.initials: M
authors.lastname: Rosenberg-Bourgin
authors.forename: H
authors.initials: H
authors.lastname: Martinez
authors.forename: M
authors.initials: M
authors.lastname: Tredano
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: P
authors.initials: P
authors.lastname: Aymard
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: Y
authors.initials: Y
authors.lastname: Le Bouc
authors.forename: M P
authors.initials: MP
authors.lastname: Vazquez
authors.forename: M
authors.initials: M
authors.lastname: Bahuau
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008047:Lip Diseases / Q000235:genetics*; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D019655:Quantitative Trait, Heritable; D013577:Syndrome