From: Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients
Exon/intron | 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 | Type of mutation (number of different mutations; total number of patients) |
---|---|---|---|---|---|
Exon 2 | 9 (1) | 7 (19) | 3 | 22 | Frameshift (5; 15) Missense (3; 5) Splicing site (1; 2) |
Intron 2 | 1 | 0 | 1 | 1 | Splicing site (1; 1) |
Exon 3 | 6 (0) | 4 (10) | 2 | 12 | Frameshift (2; 2) Missense (4; 10) |
Intron 3 | 1 | 0 | 1 | 1 | Splicing site (1; 1) |
Exon 4 | 2 (1) | 3 (4) | 0 | 4 | Missense (2; 4) |
Intron 4 | 2 (1) | 4 (18) | 0 | 18 | Splicing site (2; 18) |
Exon 5 | 1 | 1 (3) | 0 | 3 | Frameshift (1; 3) |
Intron 5 | 3 (0) | 1 (2) | 2 | 4 | Splicing site (3; 4) |
Exon 6 | 2 (0) | 2 (5) | 0 | 5 | Frameshift (1; 2) Missense (1; 3) |
Intron 6 | 0 | 0 | 0 | 0 | n.a. |
Exon 7 | 1 | 0 | 1 | 1 | Frameshift (1; 1) |
Intron 7 | 1 | 1 (2) | 0 | 2 | Splicing site (1; 2) |
Exon 8 | 3 (0) | 2 (8) | 1 | 9 | Frameshift (2; 5) Missense (1; 4) |
Intron 8 | 0 | 0 | 0 | 0 | n.a. |
Exon 9 | 10 (3) | 11 (30) | 5 | 35 | Frameshift (3; 8) Nonsense (2; 12) Missense (5; 15) |
Intron 9 | 0 | 0 | 0 | 0 | n.a. |
Exon 10 | 12 (1) | 10 (23) | 4 | 27 | Frameshift (7; 16) Nonsense (4;10) Missense (1; 1) |
Double mutation | 2 (0) | 1 (5) | 0 | 5 | Frameshift exon 8 Missense exon 4 |
Total | 56 (7) | 47 (129) | 20 | 149 | Frameshift (23; 57*§) Nonsense (6; 22#) Missense (18; 47*¥) Splicing site (9; 28ɸ) |