PMID- 22490989
OWN - NLM
STAT- MEDLINE
DCOM- 20120808
LR  - 20211021
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 35
IP  - 2
DP  - 2012 Feb
TI  - A novel menin gene deletional mutation in a little series of Italian patients 
      affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome.
PG  - 124-8
AB  - AIM: To perform a genetic screening for the multiple endocrine neoplasia type 1 
      (MEN1) gene mutations in patients affected by an apparently sporadic form of the 
      disease, referred to an internal medicine unit of a large general hospital. 
      SUBJECTS AND METHODS: In a group of 12 consecutive patients presenting clinical 
      features of MEN type 1 syndrome, we performed a genetic screening for germline 
      MEN1 gene mutations, including complete sequencing of the coding region (exons 2 
      to 10) and multiplex ligation-dependent probe amplification analysis for large 
      deletion detection. RESULTS: Among these patients affected by apparently sporadic 
      MEN type 1 syndrome, a targeted clinical history could detect indirect support 
      for a diagnosis of familial condition only in 2 cases. The genetic screening 
      identified pathogenic germline MEN1 gene mutations in 3 patients (25%). A 
      previously unknown 18 base-pair deletion within exon 3, 
      c.564_581delCAATGGGGAGCAGACAGC, resulting in loss of 6 amino acids 
      (pAsp189_Ala194del), was found in heterozygosis in a woman affected by primary 
      hyperparathyroidism and multifocal pancreatic neoplasia. CONCLUSIONS: Our results 
      underscore the importance of performing genetic testing also in apparently 
      sporadic MEN1 patients and extend the list of molecular variants leading to 
      inactivation of the MEN1 gene.
FAU - Giacche, M
AU  - Giacche M
AD  - Internal Medicine Division, Department of Medical and Surgical Sciences, 
      University of Brescia - Spedali Civili of Brescia, Italy. 
      mara.giacche@spedalicivili.brescia.it
FAU - Panarotto, A
AU  - Panarotto A
FAU - Mori, L
AU  - Mori L
FAU - Daffini, L
AU  - Daffini L
FAU - Tacchetti, M C
AU  - Tacchetti MC
FAU - Pirola, I
AU  - Pirola I
FAU - Agabiti Rosei, E
AU  - Agabiti Rosei E
FAU - Castellano, M
AU  - Castellano M
LA  - eng
PT  - Journal Article
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma/etiology/genetics
MH  - Adult
MH  - Cohort Studies
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Insulinoma/etiology/genetics
MH  - Italy
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/complications/*genetics
MH  - Pancreatic Neoplasms/etiology/genetics
MH  - Parathyroid Neoplasms/etiology/genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - *Sequence Deletion/physiology
MH  - Syndrome
EDAT- 2012/04/12 06:00
MHDA- 2012/08/09 06:00
CRDT- 2012/04/12 06:00
PHST- 2012/04/12 06:00 [entrez]
PHST- 2012/04/12 06:00 [pubmed]
PHST- 2012/08/09 06:00 [medline]
AID - 8320 [pii]
AID - 10.1007/BF03345419 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2012 Feb;35(2):124-8. doi: 10.1007/BF03345419.