Background: A large New Zealand Maori family has non-syndromic coronal craniosynostosis, which is inherited as an autosomal dominant mutation with variable expression. The aim of the study is to determine whether the family has the pro250arg mutation in the gene for fibroblast growth factor receptor 3 (FGFR3), a mutation found in patients with various types of craniosynostosis.
Patients: Fourteen members of a New Zealand Maori family were evaluated, of whom five have coronal synostosis. A family pedigree tracing six generations was recorded.
Methods: Blood samples were drawn for genomic DNA analysis from 14 family members. Polymerase chain reaction, restriction-enzyme digestion and DNA sequencing was performed to identify the pro250arg mutation in FGFR3.
Results: Seven family members were heterozygous for the pro250arg mutation in FGFR3. The mutation showed autosomal dominance with reduced penetrance and variable expressivity.
Conclusion: Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses.