PMID- 15240620
OWN - NLM
STAT- MEDLINE
DCOM- 20040810
LR  - 20091103
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 89
IP  - 7
DP  - 2004 Jul
TI  - Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature 
      mortality in familial MEN1 syndrome with founder mutations.
PG  - 3392-6
AB  - Estimation of mortality and the natural course of a disease is usually based on 
      information of carefully studied individuals with or at risk for a specific 
      disease. Genealogical information has rarely been accurate enough for such 
      studies. With the help of church records and multiple endocrine neoplasia type 1 
      (MEN1) family information of the two founder MEN1 mutations in Northern Finland 
      (1466del12 and 1657insC), we could trace back common ancestors born in the 
      beginning of the 1700s (1466del12) and approximately 1850 (1657insC) and find 67 
      probable gene carriers born between 1728 and 1929, which were identified among 
      their offspring. Information was gathered from 34 obligatory MEN1 gene carriers 
      and 31 spouses. The mean age (+/- sd) of death of affected males (n = 16) was 
      61.1 +/- 12.0 yr vs. 65.8 +/- 15.3 yr for unaffected males (n = 16) and for 
      affected females (n = 16) was 67.2 +/- 10.7 yr vs. 67.7 +/- 14.7 yr for 
      unaffected females (n = 13). The ages of death of the obligatory heterozygotes 
      did not differ from that of the spouses in sex groups or from the sex-matched 
      life expectancy estimates derived from Finnish national statistics. Causes of 
      death differed significantly between female probands and spouses. In conclusion, 
      obligatory MEN1 gene carrier status did not show a harmful effect on survival in 
      this retrospective analysis tracing back to almost 300 yr.
FAU - Ebeling, T
AU  - Ebeling T
AD  - Department of Medicine, Oulu University Hospital, PB 20, FIN-90029 OYS, Finland. 
      tapani.ebeling@oulu.fi
FAU - Vierimaa, O
AU  - Vierimaa O
FAU - Kytola, S
AU  - Kytola S
FAU - Leisti, J
AU  - Leisti J
FAU - Salmela, P I
AU  - Salmela PI
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Age Distribution
MH  - Aged
MH  - Aged, 80 and over
MH  - Cause of Death
MH  - Female
MH  - Finland
MH  - *Founder Effect
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/*mortality
MH  - *Mutation
MH  - Proto-Oncogene Proteins/*genetics
MH  - Retrospective Studies
EDAT- 2004/07/09 05:00
MHDA- 2004/08/11 05:00
CRDT- 2004/07/09 05:00
PHST- 2004/07/09 05:00 [pubmed]
PHST- 2004/08/11 05:00 [medline]
PHST- 2004/07/09 05:00 [entrez]
AID - 89/7/3392 [pii]
AID - 10.1210/jc.2003-031513 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2004 Jul;89(7):3392-6. doi: 10.1210/jc.2003-031513.