PMID- 9893679
OWN - NLM
STAT- MEDLINE
DCOM- 19990121
LR  - 20091119
IS  - 0012-0472 (Print)
IS  - 0012-0472 (Linking)
VI  - 123
IP  - 51-52
DP  - 1998 Dec 18
TI  - [Germline mutations in the MEN1 gene: basis for predictive genetic screening and 
      clinical management of multiple endocrine neoplasia type 1 (MEN1) families].
PG  - 1535-40
AB  - BACKGROUND AND OBJECTIVE: Mutations in the MEN 1 gene were recently discovered as 
      the causative genetic defect of the autosomal dominantly inherited multiple 
      endocrine neoplasia type 1. It was the aim of this study to evaluate the spectrum 
      of MEN 1 mutations in our own series of patients in order to obtain a basis for 
      predictive family screening. PATIENTS AND METHODS: Genomic DNA from peripheral 
      blood of 21 patients with MEN 1, members of 14 non-related MEN 1 families, was 
      examined for MEN 1 germ-line mutations by means of single-strand conformation 
      variant analysis (SSCP) and direct DNA sequencing. In addition, blood from 20 
      asymptomatic family members of five families was tested for its predictive value. 
      RESULTS: Eleven different heterozygotic germ-line mutations, among them eight 
      frameshift, two missense and one nonsense mutations, were identified. In four of 
      the 20 asymptomatic members from five MEN 1 families who had been tested after 
      appropriate genetic counselling, the MEN 1 mutation characteristic for the 
      particular family was found. Clinical screening programme in three mutation 
      carriers revealed abnormal findings in all three: one primary 
      hyperparathyroidism, one prolactinoma and one nonfunctioning pancreatic tumour 
      each. The 16 family members without MEN 1 mutation were spared further 
      unnecessary screening investigations. CONCLUSION: Although the function of the 
      MEN 1 gene is not yet known, molecular genetic tests provide a basis for genetic 
      counselling, predictive genetic screening and clinical management of MEN 1 
      families.
FAU - Bartsch, D
AU  - Bartsch D
AD  - Klinik fur Allgemeinchirurgie, Philipps-Universitat Marburg. 
      bartsch@mailer.uni.marburg.de
FAU - Kopp, I
AU  - Kopp I
FAU - Bergenfelz, A
AU  - Bergenfelz A
FAU - Rieder, H
AU  - Rieder H
FAU - Deiss, Y
AU  - Deiss Y
FAU - Munch, K
AU  - Munch K
FAU - Rothmund, M
AU  - Rothmund M
FAU - Simon, B
AU  - Simon B
LA  - ger
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
TT  - Keimbahnmutationen im MEN1-Gen: Basis fur pradiktives genetisches Screening und 
      klinisches Management von MEN1-Familien.
PL  - Germany
TA  - Dtsch Med Wochenschr
JT  - Deutsche medizinische Wochenschrift (1946)
JID - 0006723
RN  - 0 (Codon, Nonsense)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Codon, Nonsense/genetics
MH  - DNA/blood/chemistry
MH  - Female
MH  - Frameshift Mutation
MH  - *Genetic Testing
MH  - *Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/therapy
MH  - Mutation, Missense
MH  - Polymorphism, Single-Stranded Conformational
MH  - Predictive Value of Tests
MH  - Sequence Analysis, DNA
EDAT- 1999/01/20 00:00
MHDA- 1999/01/20 00:01
CRDT- 1999/01/20 00:00
PHST- 1999/01/20 00:00 [pubmed]
PHST- 1999/01/20 00:01 [medline]
PHST- 1999/01/20 00:00 [entrez]
AID - 10.1055/s-2007-1024219 [doi]
PST - ppublish
SO  - Dtsch Med Wochenschr. 1998 Dec 18;123(51-52):1535-40. doi: 
      10.1055/s-2007-1024219.