Table 6 Distribution of MEN1 mutation types in our MEN1 patients
From: Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients
Mutation type | Number of different mutations (number of mutations carried by more than one family/case) | Number of pedigrees (total cases) | Number of single cases | Total number of patients |
|---|---|---|---|---|
Frameshift mutations | 22 (1) | 17 (46) | 6 | 52 |
Missense mutations | 17 (3) | 15 (36) | 6 | 42 |
Nonsense mutations | 6 (2) | 7 (18) | 4 | 22 |
Splicing site mutations | 10 (1) | 7 (24) | 4 | 28 |
Double mutation (frameshift and missense) | 1 | 1 (5) | 0 | 5 |
Large intra-genic deletions | 2 | 2 (4) | 0 | 4 |
Predisposing familial 11q13 haplotype | n.a. | 1 (2) | 0 | 2 |
Patients without an identified MEN1 mutation (negative Sanger’s sequencing analysis) | n.a. | 1 (3) | 7 | 10 |
Total | 58 | 52 (138) | 27 | 165 |