Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait

• Published in: Annales de génétique Vol. 42; no. 2; p. 69
• Main Authors: Houdayer, C, Soupre, V, Rosenberg-Bourgin, M, Martinez, H, Tredano, M, Feldmann, D, Feingold, J, Aymard, P, Munnich, A, Le Bouc, Y, Vazquez, M P, Bahuau, M
• Format: Journal Article
• Language: English
• Published: Netherlands 1999
• Subjects: Chromosome Mapping; Chromosomes, Human, Pair 1; Cleft Lip - genetics; Cleft Palate - genetics; Female; Genes, Dominant; Genetic Linkage; Humans; Lip Diseases - genetics; Lod Score; Male; Microsatellite Repeats; Pedigree; Quantitative Trait, Heritable; Syndrome
• ISSN: 0003-3995

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.