PMID- 10980535
OWN - NLM
STAT- MEDLINE
DCOM- 20001030
LR  - 20041117
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 16
IP  - 3
DP  - 2000 Sep
TI  - Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial 
      isolated hyperprolactinemia.
PG  - 269
AB  - Multiple endocrine neoplasia type 1 (MEN-1) is characterized by hyperfunction and 
      tumor formation of the parathyroids, anterior pituitary and endocrine pancreas. 
      We carried out exon-specific, PCR-based DNA sequencing of the coding exons of the 
      MEN1 gene in 8 Israeli MEN1 patients: 4 familial and 4 sporadic. We similarly 
      analyzed Israeli families with a unique phenotype of isolated hyperprolactinemia 
      (HPRL). Four mutations were detected in 4 MEN1 patients: C to T alteration at 
      nucleotide 2608 resulting in R108X, and three intronic insertions/deletions (a 13 
      basepair (bp) deletion and a 1 bp insertion both in intron 1, and a 2 bp 
      insertion in intron 3) leading to exonic frame shifts as they encompass the 
      splice junctions. An additional patient exhibited a compound mutation: a G to T 
      change at position 7614 resulting in E463X, and insertion/deletion of 9 bp at 
      position 7622-7630 resulting in EAE466-468X. Haplotype analysis showed no 
      segregation of phenotype with 11q13 markers in 4 familial HPRL, and no men 1 
      germline mutations were detected in three representative individuals, from 3 
      families. Our results confirm that men 1 gene germline mutations occur in the 
      majority of patients with clinically diagnosed MEN1, and that familial HPRL is a 
      genetically distinct disorder.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Jakobovitz-Picard, O
AU  - Jakobovitz-Picard O
AD  - The Susanne Levy Gertner Oncogenetics Unit, Endocrine Institute, the Chaim Sheba 
      Medical Center, Tel-Hashomer, 52621, Israel.
FAU - Olchovsky, D
AU  - Olchovsky D
FAU - Berezin, M
AU  - Berezin M
FAU - Ghodsizade, A
AU  - Ghodsizade A
FAU - Zahavi, Z
AU  - Zahavi Z
FAU - Karasik, A
AU  - Karasik A
FAU - Rechavi, G
AU  - Rechavi G
FAU - Friedman, E
AU  - Friedman E
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genes, Tumor Suppressor/genetics
MH  - Germ-Line Mutation/genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Israel
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - *Proto-Oncogene Proteins
MH  - Sequence Deletion/genetics
EDAT- 2000/09/12 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/09/12 11:00
PHST- 2000/09/12 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/09/12 11:00 [entrez]
AID - 10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2 [pii]
AID - 10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2 [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Sep;16(3):269. doi: 
      10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2.