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

Ann Genet. 1999;42(2):69-74.

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.

MeSH terms

  • 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