C. Houdayer et al., Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait, ANN GENET, 42(2), 1999, pp. 69-74
van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant cleft
ing condition with cardinal features of mucous cysts (lower-lip pits) and c
lefts to the lip and/or palate. The vWS gene has been assigned to a locus i
n 1q32-q41 by linkage analysis and physical mapping. We have investigated 5
novel vWS families through probands attended for cleft lip and/or palate r
epair at the Department of Maxillofacial Surgery of Hopital Trousseau, Pari
s, 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, D1S245, D1S491, D1S205, D1S414, D
1S425), 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 linkag
e of vWS within a region of tightly linked markers and do not favour locus
heterogeneity of the disease trait.