Table I.
Number and type of mutations identified in a sample of 32 FGFR2-associated craniosynostosis syndromic patients at the Hospital for Sick Children (Toronto, Ontario) between 1990 and 2011. IM - intestinal (bowel) malrotation.
| Mutation in FGFR2 | # of Patients | GI Symptoms | |
|---|---|---|---|
|
| |||
| Crouzon (10 patients) | p.Ser282Cys | 1 | — |
| p.Trp290Gly | 1 | — | |
| p.Trp290Arg | 2 | — | |
| p.Tyr328Cys | 1 | — | |
| Missense mutations in IgIII domain of FGFR2 | p.Cys342Ser | 2 | — |
| p.Cys342Phe | 1 | — | |
| p.Ala344Ala | 1 | — | |
| Specific mutation not identified | 1 | — | |
|
| |||
| Pfeiffer (7 patients) | p.Ser252Trp | 1 | — |
| p.Cys278Phe | 1 | — | |
| Mutations in IgIII domain and S252 of FGFR2 | c.940-1G>A | 1 | — |
| p.Cys342Arg | 2 | IM | |
| Specific mutation not identified | 2 | — | |
|
| |||
| Apert (15 patients) | p.Ser252Trp | 1 | IM |
| p.Ser252Trp | 6 | — | |
| Deletion and missense mutations in S252 and P253 of FGFR2 | p.Pro253Arg | 3 | — |
| g.79706_81077del1372* | 1 | — | |
| Specific mutation not identified | 4 | — | |
*
Previously reported in Fenwick et al., [2011]