Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.
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.
Houdayer
C
C
Service de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, Paris, France.
Soupre
V
V
Rosenberg-Bourgin
M
M
Martinez
H
H
Tredano
M
M
Feldmann
D
D
Feingold
J
J
Aymard
P
P
Munnich
A
A
Le Bouc
Y
Y
Vazquez
M P
MP
Bahuau
M
M
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