Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.
Orofacial clefting (OFC) is genetically complex in that no single gene defect is responsible for all forms. We have identified a family who exhibit autosomal dominant orofacial clefting together with some features of ectodermal dysplasia. In this family there is concordance between these features and an apparently balanced translocation t(6;9)(p23;q22.3) which raises the possibility that a locus for one form of orofacial clefting may be located at one of the translocation breakpoints. Fluorescent in situ hybridization has shown that a candidate gene for OFC, which maps to distal 6p, is located on the derived chromosome 9 in affected individuals from this family. Further characterization of the translocation breakpoints and of their relationship with the candidate gene will determine whether a gene important for normal facial and/or ectodermal development is disrupted in this family.
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
D
D
Donnai
L J
LJ
Heather
P
P
Sinclair
Y
Y
Thakker
P J
PJ
Scambler
M J
MJ
Dixon
D000328:Adult; D002896:Chromosomes, Human, Pair 6; D002899:Chromosomes, Human, Pair 9; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014178:Translocation, Genetic