Table 6.

Distribution of MEN1 mutation types in our MEN1 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

Footnote: N.A. Non-applicable