Table 1

 Clinical features of probands and families found to have MEN1 mutations

FamilyClinical risk features† of probandMEN1related tumours† of family membersMutationEffect on proteinReference
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
1P, PI, FHP, PADeletion of exon 1 and 2Loss of start site8
2P, FHP13insACGCTdelGCCFrameshift
3P, G, FHPI, G74del15Frameshift
4P, PI, PA, FHP, PI, PA, C249–253delGTCTFrameshift8, 10, 4
5P, FHP, PI, PA249–253delGTCTFrameshift8, 10, 4
6P, PI, FHP, PI, PA, G249–253delGTCTFrameshift8, 10, 4
7P, FHP255ins19Frameshift
8P, PI, FHP, PI.PA, C269–271delATFrameshift4
9P, G, C, FHP, G, C322C→TR108X4
10P, PA, FHP, PA404–405delAFrameshift
11P, PI, PA, FHP, PI, PA, G, C, LIVS2–3C→GSplicing error10
12P, PI, PA571G→TE191X4
13P, FHP590C→TT197I
14P, PI625–629delCAGAFrameshift
15P, FHP, PI631–635delGTCAFrameshift
16P, PI, FHP, PI, PA, CIVS3+1G→TSplicing error10
17P, C, FHP, PA, C, L660G→AW220X8
18P, FHG, C686G→TR229L4, 8, 10
19P, PI, PA, G, FHP, GIVS4+1G→TSplicing error10
20P, PA, G772C→TQ258X9
21P, C, FHP, G851C→AA284E
22P, PI, PAIVS5+1G→ASplicing error33
23P, PI, FHP, G1010C→AA337D34
24P, G, A, FHP, G1056T→GY353D
25P, FHP1057–1060delACTY353del
26†P, PI, G, FHP1117C→TP373S8
27P, PI, G, FHP, PI1227C→AC409X
28P, PI, G, C, FHP, PI1244G→CR415P8
29P, FHP, PI, G, C1252G→CD419H
30P, C, FHP, PI, PA, C1268G→AW423X8
31P, PA, C, FHP1268G→AW423X8
32P, PA, FHP, C1304–1305delGFrameshift35
33P, PI, G, C, FHP, G, L1342-IVS9+2delFrameshift36
34P, PI, PA, A1378C→TR460X4, 6, 8
35P, PA, G, C1378C→TR460X4, 6, 8
36P, PI, G, C, FH?1410C→TQ450X37
37P, G, FHP, GIVS9del-13-+1Splicing error
38P, PI, PA, FHP, PI1546–1547delCFrameshift4,6,34
40P, PA, PI, FHP, PI1546–1547delCFrameshift4,6,34
41‡P, PI, PA, FHP, PI, PA, G, C, L1546–1547insCFrameshift4,6,8,10,34
42P, FHP1546–1547insCFrameshift4,6,8,10,34
43P, PI, PA, FHP1546–1547insCFrameshift4,6,8,10,34
44P, FHP, G1548–1549insGFrameshift
45P, PA, FHP1548–1549insGFrameshift
46P, PA1556–1557insTFrameshift37
47P, PI, PA1579C→TR527X10
48P, PI, FHP, PA1590delA, 1592G→CFrameshift38
49P, PA, G, L, FHP, G, L1688A→T, 1693–1694delCTFrameshift
50P, L, FHP, PI, G, L1701delCFrameshift