A diagnosis of a sporadic case of crouzon syndrome with a point mutation in the FGFR-2

A 54-year-old Japanese woman was diagnosed as a sporadic case of Crouzon syndrome by detection of a point mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene. She has 12 brethren. All of them are healthy. Her IQ was 75 in WAIS. The patient's face showed hypertelorism. Brachydactyly was observed in both of her fifth fingers. The magnetic resonance image of her brain and neck revealed an enlargement of cerebral ventricle and a Klippel-Feil anomaly. The karyotype analysis revealed no chromosomal abnormality. These findings suspected a presence of craniofacial syndrome at the basis. A point mutation was detected in her FGFR-2 gene in which the C to G transition at nucleotide 1073 involved Ser354 with predicted substitution of Cys. This mutation had been reported as one of molecular bases of Crouzon syndrome. This result suggests that mutations in FGFR-2 gene cause Crouzon syndrome also in Japanese.