PMID- 17953629
OWN - NLM
STAT- MEDLINE
DCOM- 20080430
LR  - 20220408
IS  - 0300-0664 (Print)
IS  - 0300-0664 (Linking)
VI  - 67
IP  - 5
DP  - 2007 Nov
TI  - MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 
      1.
PG  - 727-34
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      hereditary disorder associated with mutations of the MEN1 gene. MEN1 may present 
      as a familial or a sporadic disorder, with multiple endocrine tumours including 
      parathyroid adenomas or hyperplasias, and pancreatic endocrine and pituitary 
      gland tumours. The aim of this study was to examine the prevalence and spectrum 
      of MEN1 gene mutations in Hungarian patients with familial and sporadic MEN1 and 
      in those with a MEN1-related state. DESIGN: Mutation analysis, using temporal 
      temperature gradient gel electrophoresis and direct sequencing of all coding 
      exons and the corresponding exon-intron boundaries of the MEN1 gene, was 
      performed. PATIENTS AND MEASUREMENTS: Peripheral blood DNA was obtained from 32 
      patients (19 index patients with familial or sporadic MEN1 and 13 index patients 
      with familial or sporadic MEN1-related state). First degree relatives were also 
      studied. RESULTS: Ten different MEN1 gene mutations were identified in 10 index 
      patients, including four novel mutations (A91V, G28A and E26X all in exon 2, and 
      L301R in exon 6). All but one mutation occurred in index patients with familial 
      or sporadic MEN1; the prevalence of mutation was considerably higher in index 
      patients with familial MEN1 (6/6 patients, 100%) than in those with sporadic MEN1 
      (3/13 patients, 23%). Of the 13 index patients with a MEN1-related state, only 
      one patient with recurrent isolated primary hyperparathyroidism had a MEN1 gene 
      mutation. Family screening indicated mutations in six symptomatic and in one 
      asymptomatic first degree relative. CONCLUSION: These results confirm previous 
      reports on the high prevalence of novel MEN1 gene mutations among patients with 
      MEN1, and support the questionable efficacy of mutation screening in patients 
      with sporadic MEN1-related states.
FAU - Balogh, Katalin
AU  - Balogh K
AD  - 2nd Department of Medicine, Faculty of Medicine, Semmelweis Unievrsity, Budapest, 
      Hungary.
FAU - Hunyady, Laszlo
AU  - Hunyady L
FAU - Patocs, Attila
AU  - Patocs A
FAU - Gergics, Peter
AU  - Gergics P
FAU - Valkusz, Zsuzsa
AU  - Valkusz Z
FAU - Toth, Miklos
AU  - Toth M
FAU - Racz, Karoly
AU  - Racz K
LA  - eng
PT  - Journal Article
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Case-Control Studies
MH  - DNA Mutational Analysis
MH  - Evolution, Molecular
MH  - Female
MH  - Genetic Testing
MH  - Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Hungary
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation, Missense
MH  - Phenotype
MH  - Polymerase Chain Reaction/methods
MH  - Polymorphism, Genetic
MH  - Sequence Alignment
EDAT- 2007/10/24 09:00
MHDA- 2008/05/01 09:00
CRDT- 2007/10/24 09:00
PHST- 2007/10/24 09:00 [pubmed]
PHST- 2008/05/01 09:00 [medline]
PHST- 2007/10/24 09:00 [entrez]
AID - CEN2953 [pii]
AID - 10.1111/j.1365-2265.2007.02953.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2007 Nov;67(5):727-34. doi: 
      10.1111/j.1365-2265.2007.02953.x.