Six novel MEN1 gene mutations in sporadic parathyroid tumors

We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in sporadic parathyroid adenomas. Six of them have not previously been described: E60X, P32R, 261delA, 934+2T→G, S443P, and 1593insC. The tissue samples were initially submitted to LOH analysis at 11q13 followed by SSCP...

Full description

Saved in:
Bibliographic Details
Published in:Human mutation 2000-11, Vol.16 (5), p.445-445
Main Authors: Cetani, Filomena, Pardi, Elena, Giovannetti, Anna, Cerrai, Paola, Borsari, Simona, Vignali, Edda, Picone, Antonella, Cianferotti, Luisella, Miccoli, Paolo, Pinchera, Aldo, Marcocci, Claudio
Format: Article
Language:English
Subjects:
Adenoma - genetics
Aged
Genes, Tumor Suppressor - genetics
Humans
LOH
Male
MEN1
menin
Multiple Endocrine Neoplasia Type 1 - genetics
Mutagenesis, Insertional - genetics
Mutation - genetics
Mutation, Missense - genetics
Neoplasm Proteins - genetics
Parathyroid Neoplasms - genetics
parathyroid tumors
primary hyperparathyroidism
Proto-Oncogene Proteins
Sequence Deletion - genetics
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in sporadic parathyroid adenomas. Six of them have not previously been described: E60X, P32R, 261delA, 934+2T→G, S443P, and 1593insC. The tissue samples were initially submitted to LOH analysis at 11q13 followed by SSCP screening of LOH‐positive samples. Mutations were identified by direct sequencing and subcloning. Three (E60X, P32R, and 261delA) were in exon 2, one (934+2bp) in the splice junction of exon 5, one (S443P) in exon 9, and one (1593insC) in exon 10. The 3 mutations in exon 2 were associated with loss and/or creation of a restriction site. The corresponding germline sequence of the MEN1 gene was normal. Most mutations would likely result in a nonfunctional menin protein, and therefore in the loss of a tumor suppressor protein. © 2000 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6