title: Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?
abstract: The mode of inheritance of nonsyndromic cleft lip with or without cleft palate (NSCLP) is still a matter of dispute. We performed segregation analysis on three data sets of families ascertained through an affected child with NSCLP. The first two data sets were selected in France and were pooled for a global analysis. No major gene effect could be evidenced in spite of a very large number of families (666 pedigrees including 719 nuclear families). The third data set was British and consisted of three-generation families including the offspring of probands. A major gene effect, as well as a strong residual multifactorial component, were highly significant and we could show that this evidence almost entirely came from the information on probands' offspring. We conclude that a mixture of monogenic and of multifactorial cases is probably the best explanation for the observations made in this study. Analyses performed in pedigrees with multiple cases closely related might allow reducing heterogeneity and help identifying those Mendelian sub-entities.
authors.affiliation: Unité de Recherches INSERM U535, Hôpital Paul Brousse, BP 1000, 98417 Villejuif cedex, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Gajdos
authors.forename: Michel
authors.initials: M
authors.lastname: Bahuau
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Robert-Gnansia
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.forename: Sylvaine
authors.initials: S
authors.lastname: Cordier
authors.forename: Catherine
authors.initials: C
authors.lastname: Bonaïti-Pellié
mesh_terms: D002648:Child; D020090:Chromosome Segregation; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D008957:Models, Genetic; D013577:Syndrome