title: Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.
abstract: Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
authors.affiliation: School of Biological Sciences and Department of Dental Medicine, University of Manchester, UK.
authors.forename: A
authors.initials: A
authors.lastname: Gladwin
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: K
authors.initials: K
authors.lastname: Metcalfe
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: L
authors.initials: L
authors.lastname: Brueton
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: A
authors.initials: A
authors.lastname: Aylsworth
authors.forename: H
authors.initials: H
authors.lastname: Toriello
authors.forename: R
authors.initials: R
authors.lastname: Winter
authors.forename: M
authors.initials: M
authors.lastname: Dixon
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics
chemical_list: D005819:Genetic Markers