PRENATAL-DIAGNOSIS OF APERT-SYNDROME

Apert syndrome (AS) is clinically characterized by typical facial feat ures and symmetrical syndactyly of the digits. AS is inherited as an a utosomal dominant trait. Recently, a fibroblast growth factor receptor 2 (FGFR2) mutation, either C934G or C937G, was identified in exon III a. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagn osis of AS was based on associated abnormal physical features and on m olecular genetic analysis, A C-to-G transversion at position 937 of th e cDNA resulting in a proline-to-arginine substitution at codon 253 wa s found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and thi s showed that the female fetus had not inherited the mutation. (C) 199 8 John Wiley & Sons, Ltd.