Abstract: Objective To explore the differences in the phenotypic effects of two common mutations (Ser252Trp and Pro253Arg) in patients with Apert syndrome. Methods The key terms "Apert and FGFR2", "Apert syndrome and FGFR2 mutation" were retrieved in PubMed and CNKI databases respectively, and 29 literatures containing gene mutations and clinical phenotypes were selected from 227 articles. A total of 230 cases were reported, involving 37 clinical manifestations. The male to female ratio was 1:1, and the average age was 8.9±9.6 years. The correlation between clinical phenotypes and gene mutations were compared by t test, chi square test or Fisher's exact test. Results The two common mutations were detected in 87% of our patients with Apert syndrome, lower than the previously reported 98% level. The frequency of cleft palate in Ser252Trp was 2.3 times as high as that in Pro253Arg (55% vs 24%, P<0.001), and the frequency of type Ⅲsyndactyly(hands)in Pro253Arg was significantly higher than that in Ser252Trp(69% vs 29%,P<0.001),while there was no significant difference in other clinical manifestations between the two mutations. Conclusion According to the relevant literatures during 1995-2017, the frequency of two common mutations in Apert syndrome may be overestimated. There are subtle differences in the clinical phenotypes between two mutations in the Apert syndrome. Cleft palate is significantly more common in patients with the Ser252Trp mutation. In contrast, the syndactyly for hands is more severe in patients with the Pro253Arg mutation.

Key words: Apert syndrome, Craniosynostosis, FGFR2 gene mutation, Clinical phenotypes, Association