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Table 7 Distribution of mutations along coding region and splicing sites of the MEN1 gene

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)

  1. 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