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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.

Type

Journal article

Journal

Am J Med Genet

Publication Date

06/11/2000

Volume

95

Pages

4 - 9

Keywords

Child, Child, Preschool, Chromosome Mapping, Consanguinity, Craniosynostoses, DNA, Family Health, Female, Genotype, Haplotypes, Humans, Infant, Male, Microsatellite Repeats, Mutation, Pedigree, Syndrome