Table 7.

Distribution of mutations along coding region and splicing sites of the MEN1 gene

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)

Footnote: Only point and intra-exon small frameshift mutations were included in this table. Intron mutations are all splicing site mutations and they are all located near the intron-exon junction affecting splicing regulatory sequences. N.A. non-applicable. * Both these numbers include five individuals bearing two different mutations on the same MEN1 allele. ^§This number includes five still asymptomatic carriers. ^#This number includes four still asymptomatic carriers. ^¥This number includes five still asymptomatic carriers. ^ɸ This number includes four still asymptomatic carriers