. 2016 Oct 11;98:e13. doi: 10.1017/S0016672316000112

Table 2.

Clinical data of 40 MFS probands and their family members.

Patient	Gender	Diagnosis	Mutation	Systemic score	Surgery	Surgery aortic root (mm)	Age at surgery	Ectopia lentis
MFS patients and their relatives
2·1	F	MFS	FBN1: p.Cys570Tyr	10	Yes	63	20	Yes
2·2	M	MFS	FBN1: p.Cys570Tyr	11	Yes	73	33	Yes
2·3	M	MFS	FBN1: p.Cys570Tyr	8	No	^/	^/	Yes
2·4	F	MFS	FBN1: p.Cys570Tyr	7	No	^/	^/	Yes
3	F	MFS	FBN1: p.Arg1790*,	8	Yes	53	41	No
3	F	MFS	FBN1: p.Ala986Thr	8	Yes	53	41	No
4	M	MFS	FBN1: c.6313 + 3insT	11	Yes	79	28	No
5	M	MFS	FBN1: c.4582 + 1G > T	11	Yes	59	32	Yes
6	F	MFS	FBN1: p.Glu2610Lys	7	Yes	67	25	No
7	M	MFS	FBN1: c.1589–1G > A	13	Yes	64	33	No
8	F	MFS	FBN1: p.Arg364*	8	Yes	66	31	No
9	F	MFS	FBN1: p.Cys2210Tyr	9	Yes	62	42	No
10	M	MFS	FBN1: p.Glu1366Lys,	12	Yes	72	40	No
10	M	MFS	FBN1: p.Ala986Thr	12	Yes	72	40	No
12·1	M	MFS	FBN1: p.Lys1983*	11	Yes	57	22	No
12·2	F	MFS	FBN1: p.Lys1983*	6	No	^/	^/	No
13	M	MFS	FBN1: p.Arg1541*	9	Yes	70	52	No
14	M	MFS	FBN1: p.Cys85Phe	12	Yes	73	22	Yes
16	F	MFS	FBN1: p.Trp988*	9	Yes	72	25	No
17	M	MFS	FBN1: p.Asn1282Ser,	9	Yes	78	29	No
17	M	MFS	SMAD3: p.Ser423Arg	9	Yes	78	29	No
19	M	MFS	FBN1: p.Cys1320*	11	Yes	65	32	No
20	M	MFS	FBN1: p.Cys2571Tyr	9	Yes	71	19	Yes
23·1	F	MFS	FBN1: p.Arg2394*	8	Yes	60	32	Yes
23·2	F	MFS	FBN1: p.Arg2394*	7	No	^/	^/	Yes
24	M	MFS	FBN1: p.Gly880Asp	9	No	^/	^/	Yes
25	M	MFS	FBN1: p.Cys1408Arg	7	Yes	110	24	Yes
26·1	F	MFS	FBN1: p.Thr2785Tyr fs*16	14	Yes	79	24	No
26·2	F	Unaffected	No	3	No	^/	^/	No
26·3	M	Unaffected	No	2	No	^/	^/	No
27	M	MFS	FBN1: c.1960 + 1G > A,	13	Yes	64	35	Yes
			NOTCH1: p.Pro2138Leu,
			FLNA: p.Ser61Asn
28	M	MFS	FBN1: p.Cys2611Arg	9	Yes	90	23	No
29·1	F	MFS	FBN1: p.Cys85Tyr	6	Yes	61	39	Yes
29·2	F	MFS	FBN1: p.Cys85Tyr	11	No	^/	^/	Yes
29·3	M	MFS	FBN1: p.Cys85Tyr	5	No	^/	^/	Yes
31	M	MFS	No	10	Yes	65	49	No
32	M	MFS	No	11	Yes	78	31	No
33	M	MFS	No	11	Yes	68	37	No
34	M	MFS	No	10	No	^/	^/	No
40	M	MFS	No	11	Yes	120	31	Yes
MFS-like and their relatives
1	M	MFS-like	TGFBR1: p.Arg237Gly	6	Yes	67	42	No
11·1	F	MFS-like	FBN1: p.Ile2585Thr	3	Yes	70	49	No
11·2	M	MFS-like	FBN1: p.Ile2585Thr	5	No	^/	^/	No
15	M	MFS-like	FBN1: p.Gln2517*	5	Yes	57	43	No
18	F	MFS-like	FBN1: p.Met2347 fs*19	5	Yes	64	48	No
21	M	MFS-like	FBN1: p.Arg565*	6	Yes	74	30	No
22	M	MFS-like	FLNA: p.Ala1141Thr	3	Yes	70	57	No
30	F	MFS-like	No	2	Yes	78	43	No
35	M	MFS-like	No	2	Yes	73	45	No
36	M	MFS-like	No	4	Yes	50	46	No
37	M	MFS-like	No	6	No	^/	^/	No
38	M	MFS-like	No	4	Yes	57	64	No
39	M	MFS-like	No	4	Yes	67	64	No

Patient numbers are in accordance with the patient numbers in Table 1 and suffixes indicate family members.

: no surgery.