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Keimbahnmutationen im MEN1-Gen : Basis für prädiktives genetisches Screening und klinisches Management von MEN1-Familien

Bartsch, D.; Kopp, I.; Bergenfelz, A LU ; Rieder, Harald; Deiss, Y; Münch, K; Rothmund, M and Simon, Benjamin (1998) In Deutsche medizinische Wochenschrift (1946) 123(51-52). p.40-1535
Abstract

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... (More)

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.

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author
alternative title
Germline mutations in the MEN1 gene : Germ-line mutations in the gene for multiple endocrine neoplasia type 1 (MEN 1): basis for predictive genetic screening and clinical management of MEN 1 families
publishing date
type
Contribution to journal
publication status
published
keywords
Adult, Codon, Nonsense, DNA, Female, Frameshift Mutation, Genetic Testing, Germ-Line Mutation, Heterozygote, Humans, Male, Multiple Endocrine Neoplasia Type 1, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Predictive Value of Tests, Sequence Analysis, DNA, English Abstract, Journal Article, Research Support, Non-U.S. Gov't
in
Deutsche medizinische Wochenschrift (1946)
volume
123
issue
51-52
pages
6 pages
external identifiers
  • scopus:0032545472
ISSN
0012-0472
DOI
10.1055/s-2007-1024219
language
German
LU publication?
no
id
d4ba2017-5a54-4806-bd0e-3db67f46bca3
date added to LUP
2017-05-10 17:37:24
date last changed
2017-05-14 04:51:08
@article{d4ba2017-5a54-4806-bd0e-3db67f46bca3,
  abstract     = {<p>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.</p><p>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.</p><p>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.</p><p>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.</p>},
  author       = {Bartsch, D. and Kopp, I. and Bergenfelz, A and Rieder, Harald and Deiss, Y and Münch, K and Rothmund, M and Simon, Benjamin},
  issn         = {0012-0472},
  keyword      = {Adult,Codon, Nonsense,DNA,Female,Frameshift Mutation,Genetic Testing,Germ-Line Mutation,Heterozygote,Humans,Male,Multiple Endocrine Neoplasia Type 1,Mutation, Missense,Polymorphism, Single-Stranded Conformational,Predictive Value of Tests,Sequence Analysis, DNA,English Abstract,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {ger},
  month        = {12},
  number       = {51-52},
  pages        = {40--1535},
  series       = {Deutsche medizinische Wochenschrift (1946)},
  title        = {Keimbahnmutationen im MEN1-Gen : Basis für prädiktives genetisches Screening und klinisches Management von MEN1-Familien},
  url          = {http://dx.doi.org/10.1055/s-2007-1024219},
  volume       = {123},
  year         = {1998},
}