Molecular diagnosis of Apert syndrome in Chinese patients

Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made.