PMID- 18601604
OWN - NLM
STAT- MEDLINE
DCOM- 20080904
LR  - 20161018
IS  - 1434-6621 (Print)
IS  - 1434-6621 (Linking)
VI  - 46
IP  - 6
DP  - 2008
TI  - A novel MEN1 frameshift germline mutation in two Italian monozygotic twins.
PG  - 824-6
LID - 10.1515/CCLM.2008.165 [doi]
AB  - BACKGROUND: This report describes clinical, biochemical and molecular findings 
      regarding two Italian monozygotic twins carrying a novel multiple endocrine 
      neoplasia type 1 (MEN1) mutation inherited from their mother. METHODS: Clinical, 
      biochemical and genetic evaluations of the above-mentioned family members were 
      performed. RESULTS: All three members were heterozygous for a deletion involving 
      the first nucleotide at codon 98 in exon 2 of the MEN1 gene, which results in 
      early termination of the protein. The clinical phenotypes were as follows: one 
      out of the two twins suffered from insulinoma and hyperparathyroidism, while the 
      second one was asymptomatic. Furthermore, the mother suffered from 
      hyperparathyroidism, as well as from hypergastrinemia for several years before 
      the daughter was diagnosed of MEN-1. CONCLUSIONS: We describe a family with a new 
      heterozygous mutation (g.292delC) in the MEN1 gene not described previously. The 
      mutation leads to a truncated protein without activity, explaining the clinical 
      picture of this family.
FAU - Concolino, Paola
AU  - Concolino P
AD  - Laboratory of Molecular Biology, Institute of Biochemistry and Clinical 
      Biochemistry, Catholic University, Rome, Italy.
FAU - Rossodivita, Aurora
AU  - Rossodivita A
FAU - Carrozza, Cinzia
AU  - Carrozza C
FAU - Raffaelli, Marco
AU  - Raffaelli M
FAU - Lombardi, Celestino Pio
AU  - Lombardi CP
FAU - Rigante, Donato
AU  - Rigante D
FAU - Pitocco, Dario
AU  - Pitocco D
FAU - Stabile, Achille
AU  - Stabile A
FAU - Bellantone, Rocco
AU  - Bellantone R
FAU - Zuppi, Cecilia
AU  - Zuppi C
FAU - Capoluongo, Ettore
AU  - Capoluongo E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Clin Chem Lab Med
JT  - Clinical chemistry and laboratory medicine
JID - 9806306
SB  - IM
MH  - Adolescent
MH  - Diseases in Twins/*genetics
MH  - Family
MH  - Female
MH  - *Frameshift Mutation
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Hyperparathyroidism, Primary/diagnosis/genetics/metabolism
MH  - Insulinoma/diagnosis/genetics/metabolism
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/metabolism
MH  - Pancreatic Neoplasms/diagnosis/genetics/metabolism
MH  - Twins, Monozygotic
EDAT- 2008/07/08 09:00
MHDA- 2008/09/05 09:00
CRDT- 2008/07/08 09:00
PHST- 2008/07/08 09:00 [pubmed]
PHST- 2008/09/05 09:00 [medline]
PHST- 2008/07/08 09:00 [entrez]
AID - 10.1515/CCLM.2008.165 [pii]
AID - 10.1515/CCLM.2008.165 [doi]
PST - ppublish
SO  - Clin Chem Lab Med. 2008;46(6):824-6. doi: 10.1515/CCLM.2008.165.