Table 2. Recurrent mutations in the exons 24–32 region and their type of presentation.

Mutation	Effect	Number of event	Type of presentation	References
c.2860C>T	p.Arg954Cys	2	Classical MFS (2)	Comeglio et al24; L Adès, personal communication
c.2953G>A	p.Gly985Arg	2	Classical MFS (1), probable MFS (1)	Loeys et al25, Rommel et al26
c.2980G>T	p.Glu994X	2	Classical MFS (2)	Comeglio et al24, Karttunen et al27
c.3037G>A	p.Gly1013Arg	7	Neonatal MFS (1), severe MFS (3), classical MFS (2), probable MFS (1)	Tiecke et al8, Comeglio et al24, Nijbroek et al28, Liu et al29, Lo et al30, Biggin et al31
c.3058A>G	p.Thr1020Ala	2	Probable MFS (1), other type I fibrillinopathy (1)	Tiecke et al8; C Boileau, personal communication
c.3095G>A	p.Cys1032Tyr	2	Neonatal MFS (2)	Comeglio et al24, Ng et al32
c.3143T>C	p.Ile1048Thr	5	Neonatal MFS (3), severe MFS (1), probable MFS (1)	Collod-Beroud et al11, Comeglio et al24, Lonnqvist et al33, Jacobs et al34
c.3157T>C	p.Cys1053Arg	2	Neonatal MFS (2)	Putnam et al7, Collod-Beroud et al11
c.3202T>C	p.Cys1068Arg	2	Neonatal MFS (1), probable MFS (1)	L Adès, personal communication; P Robinson, personal communication
c.3217G>A	p.Glu1073Lys	3	Neonatal MFS (2), probable MFS (1)	Putnam et al7, Nijbroek et al28, Loeys et al35
c.3299G>T	p.Gly1100Val	2	Classical MFS (2)	Loeys et al35; C Boileau, personal communication
c.3302A>G	p.Tyr1101Cys	6	Classical MFS (5), probable MFS (1)	Loeys et al25, Biggin et al31, Rommel et al36, Arbustini et al37; P Robinson, personal communication; C Boileau, personal communication
c.3344A>G	p.Asp1115Gly	2	Classical MFS (1), other type I fibrillinopathy (1)	Tiecke et al8; P Robinson, personal communication
c.3350G>A	p.Cys1117Tyr	2	Severe MFS (1), classical MFS (1)	Biggin et al31, Tynan et al38
c.3373C>T	p.Arg1125X	3	Probable MFS (1), other type I fibrillinopathy (2)	Rommel et al26; A De Paepe, personal communication; JC Hyland, personal communication
c.3388delC	p.His1130IlefsX32	4	Classical MFS (4)	Collod-Beroud et al11, Loeys et al35
c.3410G>C	p.Arg1137Pro	2	Classical MFS (2)	Dietz et al39
c.3412T>C	p.Cys1138Arg	2	Severe MFS (1), classical MFS (1)	Collod-Beroud et al11; De Paepe, personal communication
c.3463G>A	p.Asp1155Asn	2	Classical MFS (1), other type I fibrillinopathy (1)	Biggin et al31, Milewicz et al40
c.3511T>C	p.Cys1171Arg	2	Classical MFS (1), probable MFS (1)	Schrijver et al41; L Adès, personal communication
c.3656A>G	p.Tyr1219Cys	2	Classical MFS (2)	Arbustini et al37
c.3668G>A	p.Cys1223Tyr	2	Severe MFS (1), classical MFS (1)	Hewett et al42, Sood et al43
c.3725G>A	p.Cys1242Tyr	3	Severe MFS (1), classical MFS (1), probable MFS (1)	Kainulainen et al6, Schrijver et al41; P Robinson, personal communication
c.3976T>C	p.Cys1326Arg	2	Neonatal MFS (1), severe MFS (1)	Comeglio et al24, Schrijver et al41