title: Newly recognised craniosynostosis syndrome that does not map to known disease loci.
abstract: We describe a consanguineous family of Pakistani origin with five sibs, three of whom were affected by craniosynostosis of variable presentation. In addition, they had other congenital abnormalities principally affecting neurological, ocular, and limb development. We provide linkage evidence using intragenic and flanking microsatellite markers suggesting that the disease in this family was not caused by a mutation in one of the known craniosynostosis loci (FGFR1, FGFR2, FGFR3, MSX2, TWIST). Given the clinical novelty and parental consanguinity, we hypothesise that the affected individuals were autozygous for a recessively inherited mutation, at a novel locus, predisposing to craniosynostosis.
authors.affiliation: Department of Clinical Genetics, Oxford Radcliffe Hospital NHS Trust, The Churchill, United Kingdom. eblair@molbiol.ox.ac.uk
authors.forename: E M
authors.initials: EM
authors.lastname: Blair
authors.forename: S
authors.initials: S
authors.lastname: Walsh
authors.forename: M
authors.initials: M
authors.lastname: Oldridge
authors.forename: S A
authors.initials: SA
authors.lastname: Wall
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
mesh_terms: D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003241:Consanguinity; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D013577:Syndrome
chemical_list: D004247:DNA