Figure 3. DNA sequence of a part of the FGFR2 gene in the affected patients and unaffected individuals. A heterozygous missense mutation c.1030G>C in exon 10 was identified in the three affected individuals, but not in any of the unaffected family members or the normal controls. The mutation causes the Alanine 344 codon (GCG) to change to a Proline codon (CCG).