PMID- 18549467
OWN - NLM
STAT- MEDLINE
DCOM- 20090803
LR  - 20221207
IS  - 1365-2265 (Electronic)
IS  - 0300-0664 (Linking)
VI  - 70
IP  - 1
DP  - 2009 Jan
TI  - Novel germline mutations of the MEN1 gene in Greek families with multiple 
      endocrine neoplasia type 1.
PG  - 75-81
LID - 10.1111/j.1365-2265.2008.03308.x [doi]
AB  - INTRODUCTION: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      hereditary disorder associated with mutations of the MEN1 gene and characterized 
      by the combined occurrence of tumours of the parathyroid glands, the pancreatic 
      islet cells and the anterior pituitary. AIM: To identify MEN1 gene mutations and 
      characterize clinical manifestations in Greek patients with MEN1. PATIENTS AND 
      METHODS: We studied four unrelated index patients with MEN1, 17 relatives and 100 
      control subjects. Among the relatives, seven were clinically and/or biochemically 
      affected, while 10 were unaffected. DNA extraction, polymerase chain reaction 
      (PCR) and direct sequencing of the MEN1 exons 2-10 and exon/intron boundaries 
      were performed according to standard procedures. RESULTS: We identified novel 
      MEN1 gene mutations in three out of four index patients (75%) and in all affected 
      (100%) relatives. Novel mutations included: a frameshift mutation in exon 4 
      (c.684_685insG) at codon 229 (index patient A); a frameshift mutation in exon 8 
      (c.1160_1170dupAGGAGCGGCCG) involving codons 387-390 (index patient B); and a 
      missense mutation in exon 4 (c.776T > C), which substitutes leucine with proline 
      at codon 259 (L259P) (index patient C). In the fourth index patient, a common 
      polymorphism (D418D) was detected. CONCLUSIONS: This is the first report to 
      reveal a high prevalence of novel MEN1 gene mutations among Greek MEN1 patients 
      with apparent absence of genotype-phenotype correlation. Because of the small 
      number of patients examined, the high prevalence detected might be a chance 
      phenomenon.
FAU - Peppa, Melpomeni
AU  - Peppa M
AD  - Second Department of Internal Medicine-Propaedeutic, Research Institute and 
      Diabetes Center, Athens University Medical School, Attikon University Hospital, 
      Athens, Greece. molypepa@otenet.gr
FAU - Boutati, Eleni
AU  - Boutati E
FAU - Kamakari, Smaragda
AU  - Kamakari S
FAU - Pikounis, Vasilios
AU  - Pikounis V
FAU - Peros, Georgios
AU  - Peros G
FAU - Koutsodontis, Georgios
AU  - Koutsodontis G
FAU - Metaxa-Mariatou, Vassiliki
AU  - Metaxa-Mariatou V
FAU - Economopoulos, Theofanis
AU  - Economopoulos T
FAU - Raptis, Sotirios A
AU  - Raptis SA
FAU - Hadjidakis, Dimitrios
AU  - Hadjidakis D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080612
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
SB  - IM
MH  - Adult
MH  - Aged
MH  - DNA Mutational Analysis
MH  - Female
MH  - Frameshift Mutation
MH  - *Germ-Line Mutation
MH  - Greece
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation, Missense
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - White People/genetics
EDAT- 2008/06/14 09:00
MHDA- 2009/08/04 09:00
CRDT- 2008/06/14 09:00
PHST- 2008/06/14 09:00 [pubmed]
PHST- 2009/08/04 09:00 [medline]
PHST- 2008/06/14 09:00 [entrez]
AID - CEN3308 [pii]
AID - 10.1111/j.1365-2265.2008.03308.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2009 Jan;70(1):75-81. doi: 
      10.1111/j.1365-2265.2008.03308.x. Epub 2008 Jun 12.