Table 1

Clinical features of probands and families found to have MEN1 mutations

Family	Clinical risk features† of proband	MEN1related tumours† of family members	Mutation	Effect on protein	Reference
P, hyperparathyroidism; PI, pituitary tumour; PA, endocrine pancreatic tumour; G, gastrinoma or Zollinger-Ellison syndrome; C, carcinoid; L, lipoma; A, adrenal tumour/hyperplasia. The nucleotide numbering begins at the A of the ATG of the initiator Met codon as per recommendations of the Nomenclature Working Group.³⁹ †Family 26 was originally found as two separate families but subsequently found to be related. ‡Family 41 was originally found as five separate families but subsequently found to be related. §This mutation was previously incorrectly reported as 256ins18.⁸
1	P, PI, FH	P, PA	Deletion of exon 1 and 2	Loss of start site	8
2	P, FH	P	13insACGCTdelGCC	Frameshift
3	P, G, FH	PI, G	74del15	Frameshift
4	P, PI, PA, FH	P, PI, PA, C	249–253delGTCT	Frameshift	8, 10, 4
5	P, FH	P, PI, PA	249–253delGTCT	Frameshift	8, 10, 4
6	P, PI, FH	P, PI, PA, G	249–253delGTCT	Frameshift	8, 10, 4
7	P, FH	P	255ins19	Frameshift	8§
8	P, PI, FH	P, PI.PA, C	269–271delAT	Frameshift	4
9	P, G, C, FH	P, G, C	322C→T	R108X	4
10	P, PA, FH	P, PA	404–405delA	Frameshift
11	P, PI, PA, FH	P, PI, PA, G, C, L	IVS2–3C→G	Splicing error	10
12	P, PI, PA		571G→T	E191X	4
13	P, FH	P	590C→T	T197I
14	P, PI		625–629delCAGA	Frameshift
15	P, FH	P, PI	631–635delGTCA	Frameshift
16	P, PI, FH	P, PI, PA, C	IVS3+1G→T	Splicing error	10
17	P, C, FH	P, PA, C, L	660G→A	W220X	8
18	P, FH	G, C	686G→T	R229L	4, 8, 10
19	P, PI, PA, G, FH	P, G	IVS4+1G→T	Splicing error	10
20	P, PA, G		772C→T	Q258X	9
21	P, C, FH	P, G	851C→A	A284E
22	P, PI, PA		IVS5+1G→A	Splicing error	33
23	P, PI, FH	P, G	1010C→A	A337D	34
24	P, G, A, FH	P, G	1056T→G	Y353D
25	P, FH	P	1057–1060delACT	Y353del
26†	P, PI, G, FH	P	1117C→T	P373S	8
27	P, PI, G, FH	P, PI	1227C→A	C409X
28	P, PI, G, C, FH	P, PI	1244G→C	R415P	8
29	P, FH	P, PI, G, C	1252G→C	D419H
30	P, C, FH	P, PI, PA, C	1268G→A	W423X	8
31	P, PA, C, FH	P	1268G→A	W423X	8
32	P, PA, FH	P, C	1304–1305delG	Frameshift	35
33	P, PI, G, C, FH	P, G, L	1342-IVS9+2del	Frameshift	36
34	P, PI, PA, A		1378C→T	R460X	4, 6, 8
35	P, PA, G, C		1378C→T	R460X	4, 6, 8
36	P, PI, G, C, FH	?	1410C→T	Q450X	37
37	P, G, FH	P, G	IVS9del-13-+1	Splicing error
38	P, PI, PA, FH	P, PI	1546–1547delC	Frameshift	4,6,34
39	P		1546–1547delC	Frameshift	4,6,34
40	P, PA, PI, FH	P, PI	1546–1547delC	Frameshift	4,6,34
41‡	P, PI, PA, FH	P, PI, PA, G, C, L	1546–1547insC	Frameshift	4,6,8,10,34
42	P, FH	P	1546–1547insC	Frameshift	4,6,8,10,34
43	P, PI, PA, FH	P	1546–1547insC	Frameshift	4,6,8,10,34
44	P, FH	P, G	1548–1549insG	Frameshift
45	P, PA, FH	P	1548–1549insG	Frameshift
46	P, PA		1556–1557insT	Frameshift	37
47	P, PI, PA		1579C→T	R527X	10
48	P, PI, FH	P, PA	1590delA, 1592G→C	Frameshift	38
49	P, PA, G, L, FH	P, G, L	1688A→T, 1693–1694delCT	Frameshift
50	P, L, FH	P, PI, G, L	1701delC	Frameshift