PMID- 10664520
OWN - NLM
STAT- MEDLINE
DCOM- 20000331
LR  - 20220408
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 142
IP  - 2
DP  - 2000 Feb
TI  - MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia 
      type 1.
PG  - 131-7
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is a familial syndrome characterized 
      by parathyroid, enteropancreatic and pituitary tumors. The gene responsible for 
      this syndrome is localized at chromosomal 11q13 region and DNA markers from this 
      region cosegregate with the disease. The recent identification of the MEN1 gene, 
      encoding for a protein termed menin of 610 amino acids, allowed mutational 
      screening to be performed both in affected families and sporadic cases. To date 
      many different heterozygous mutations, spreading across all the encoding 
      sequence, have been identified in MEN 1 patients with no apparent mutational hot 
      spots or genotype-phenotype correlation. To analyze the genetic alterations of 
      the MEN1 gene occurring in Italian patients we performed mutational screening by 
      Denaturant Gradient Gel Electrophoresis followed by sequencing of exons 2-10 of 
      the MEN1 gene in 27 Italian MEN 1 families and in five sporadic cases. We 
      identified 17 different heterozygous mutations in 60% of analyzed cases. Twelve 
      of these mutations are novel. Two mutations each occurred twice in unrelated 
      families but no evidence of genotype-phenotype correlation can be established for 
      these families. The extension of genetic diagnosis to asymptomatic family members 
      allowed the identification of 10 MEN1 mutant gene carriers, one newly described 
      and nine previously detected by linkage analysis with DNA markers from the 11q13 
      region. Our findings add new information to the diversity of mutations occurring 
      in the MEN1 gene and confirm that the mutational screening of MEN 1 is a useful 
      approach to detect individuals at higher risk of developing MEN 1-associated 
      tumors.
FAU - Morelli, A
AU  - Morelli A
AD  - Endocrine Unit, Department of Clinical Physiopathology, University of Florence, 
      Viale Pieraccini 6, 50139, Florence, Italy.
FAU - Falchetti, A
AU  - Falchetti A
FAU - Martineti, V
AU  - Martineti V
FAU - Becherini, L
AU  - Becherini L
FAU - Mark, M
AU  - Mark M
FAU - Friedman, E
AU  - Friedman E
FAU - Brandi, M L
AU  - Brandi ML
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - DNA Mutational Analysis
MH  - Electrophoresis, Agar Gel
MH  - Exons/genetics
MH  - Female
MH  - Genetic Linkage
MH  - Genotype
MH  - Heterozygote
MH  - Humans
MH  - Italy
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation/genetics
MH  - Pedigree
MH  - Phenotype
EDAT- 2000/02/09 00:00
MHDA- 2000/02/09 00:01
CRDT- 2000/02/09 00:00
PHST- 2000/02/09 00:00 [pubmed]
PHST- 2000/02/09 00:01 [medline]
PHST- 2000/02/09 00:00 [entrez]
AID - 1420131 [pii]
AID - 10.1530/eje.0.1420131 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2000 Feb;142(2):131-7. doi: 10.1530/eje.0.1420131.