PMID- 9554741
OWN - NLM
STAT- MEDLINE
DCOM- 19980604
LR  - 20230411
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 4
DP  - 1998
TI  - Common ancestral mutation in the MEN1 gene is likely responsible for the 
      prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland.
PG  - 264-9
AB  - Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      disorder with affected individuals developing parathyroid, gastrointestinal (GI) 
      endocrine, and anterior pituitary tumors. Four large kindreds from the Burin 
      peninsula/Fortune Bay area of Newfoundland with prominent features of 
      prolactinomas, carcinoids, and parathyroid tumors (referred to as MEN1Burin) have 
      been described, and they show linkage to 11q13, the same locus as that of MEN1. 
      Haplotype analysis with 16 polymorphic markers now reveals that representative 
      affected individuals from all four families share a common haplotype over a 2.5 
      Mb region. A nonsense mutation in the MEN1 gene has been found to be responsible 
      for the disease in the affected members in all four of the MEN1Burin families, 
      providing convincing evidence of a common founder.
FAU - Olufemi, S E
AU  - Olufemi SE
AD  - Laboratory of Gene Transfer, National Human Genome Research Institute, NIH, 
      Bethesda, Maryland 20892-4442, USA.
FAU - Green, J S
AU  - Green JS
FAU - Manickam, P
AU  - Manickam P
FAU - Guru, S C
AU  - Guru SC
FAU - Agarwal, S K
AU  - Agarwal SK
FAU - Kester, M B
AU  - Kester MB
FAU - Dong, Q
AU  - Dong Q
FAU - Burns, A L
AU  - Burns AL
FAU - Spiegel, A M
AU  - Spiegel AM
FAU - Marx, S J
AU  - Marx SJ
FAU - Collins, F S
AU  - Collins FS
FAU - Chandrasekharappa, S C
AU  - Chandrasekharappa SC
LA  - eng
SI  - GENBANK/U93236
SI  - GENBANK/U93237
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 11/genetics
MH  - DNA/genetics
MH  - Female
MH  - Founder Effect
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Newfoundland and Labrador
MH  - Pedigree
MH  - Pituitary Neoplasms/*genetics
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Prolactinoma/*genetics
EDAT- 1998/04/29 06:33
MHDA- 2000/06/22 10:00
CRDT- 1998/04/29 06:33
PHST- 1998/04/29 06:33 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1998/04/29 06:33 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(4):264-9. doi: 
      10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V.