Table 1

Clinical features of familial MEN1 cases and detected germline mutations

Family examination
CaseAge at diagnosis*Sex*Parathyroid lesions†Anterior pituitary lesionsEnteropancreatic lesionsOther lesionsGermline MEN1 mutationLocationNon-carriersMutant carriers
*Age at diagnosis and sex of probands (F, female; M, male).
†Number of subjects with HPT in the family (independently of whether they were hyperplasia or adenomas). All probands had parathyroid lesions at the time of the study; (n) number of tumours in the family. NFT, non-functioning tumour; PRL, prolactinoma; ACTH, ACTH secreting tumour; GH, GH secreting tumour; mixed, prolactin and ACTH secreting tumour; I, insulinoma; G, gastrinoma.
‡Mutation not previously described.
§Familial antecedents compatible with the disease reported by patients.
¶Family with apparently FHTP.
**Results partially described by Cebrián et al.19
F1**33M4PRL (2)NFT (1)1619del25Exon 1043
F2**19M12PRL (1), ACTH (1)I (1), NFT (2)1650del1Exon 1015
F3**50F8ACTH (1), PRL (1)NFT (1)379del2Exon 245
F8**16F8PRL (1)359del4Exon 21
F11**29F6PRL (2)G (2)239del3Exon 212
F13**33F2PRL (1)Thymic carcinoidQ209XExon 343
F20**50F4PRL (1), NFT (1)I (1)W341XExon 754
F2448M4PRL (1), NFT (1)Carcinoid (1)Lung carcinoid1489dup10‡Exon 1063
F27§30M1Thymic carcinoidW341XExon 7
F2863F4PRL (1), NFT (1)NFT (1)Adrenal adenomaGross deletion13
F2933M5Mixed (1), PRL (1)G (1)Gastric carcinoid1071ins1‡Exon 748
F3140M2NFT (1)G (1)Adrenal adenoma1498del5‡Exon 1021
F3832M2G (1)Lung carcinoidH139P‡Exon 211
F4816F3PRL (1)738del4‡Exon 348
F4926M9G (5)1505del48‡Exon 1021
F5025M2PRL (1), GH (2)I (1)1780del3Exon 1022
F5218F3PRL (2)G (1)E45KExon 243
F5933F6I (3)360ins2Exon 213
F6442M1PRL (1)G (1)A49F‡Exon 251
F66¶35M4Gross deletion14
F7037F5PRL (1)666del1‡Exon 344
F7546F3G (1)A337DExon 765
F8222F4PRL (1)345del1‡Exon 24
F83§34M1NFT (1)806del 4bp‡Exon 4
F8429F1NFT (1)NFT (1)464del 3bpExon 2
F8817F1NFT (1)G (2)738del 4bpExon 3
F8939F1PRL (1)I (1)R108XExon 2
F2230M4G (2)Linkage to 11q1314