title: Localization of craniosynostosis Adelaide type to 4p16.
abstract: Craniosynostosis Adelaide type is a rare autosomal dominant syndrome associated with digital abnormalities. Linkage mapping was carried out excluding allelism to Saethre-Chotzen syndrome at 7p21, craniosynostosis Boston type at 5q34-q35, Jackson-Weiss and Crouzon syndromes at 10q24-q25 and Pfeiffer syndrome mapping near 8cen. Exclusion mapping was extended to the entire genome until linkage to chromosome 4 was detected. A maximum two-point lod score of 6.2 (theta = 0.0) was obtained with D4S412. The gene responsible for craniosynostosis Adelaide type was localized to 4p16, telomeric to D4S394. This region contains two plausible candidate genes, the MSX1 (HOX7) homeobox gene and the FGFR3 fibroblast growth factor receptor gene.
authors.affiliation: Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia.
authors.forename: G E
authors.initials: GE
authors.lastname: Hollway
authors.forename: H A
authors.initials: HA
authors.lastname: Phillips
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
mesh_terms: D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003398:Craniosynostoses / Q000235:genetics*; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051957:MSX1 Transcription Factor; D010641:Phenotype; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014157:Transcription Factors
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D017468:Receptors, Fibroblast Growth Factor; D014157:Transcription Factors