PMID- 12016470
OWN - NLM
STAT- MEDLINE
DCOM- 20021203
LR  - 20091119
IS  - 0364-2313 (Print)
IS  - 0364-2313 (Linking)
VI  - 26
IP  - 8
DP  - 2002 Aug
TI  - Genetic screening for MEN1 mutations in families presenting with familial primary 
      hyperparathyroidism.
PG  - 907-13
AB  - A large number of families with familial isolated hyperparathyroidism (FIHP) have 
      been reported. We wanted to determine if some of these families represent early 
      manifestations of full-blown syndromes such as multiple endocrine neoplasia type 
      1 (MEN-1), as early identification may alter surgical and medical management. 
      Four small families with a family history of hyperparathyroidism without 
      clear-cut MEN-1 features were screened for a MEN1 mutation. The 10 exons of the 
      MEN1 gene were amplified and analyzed by single-strand conformation analysis 
      (SSCA). Abnormal SSCA shifts were then sequenced using an automated sequencer. 
      Two germline mutations were found: R527X and P277H. The former was detected in 
      three members of a family consisting of two children and a mother. At the time of 
      testing the youngest son was normocalcemic and clinically normal but subsequently 
      developed hyperparathyroidism (HPT). Since the initial testing, the family has 
      been confirmed to be a MEN-1 family as the mother has developed abdominal pain 
      and an elevated serum pancreatic polypeptide and the younger brother an anterior 
      pituitary tumor and recurrent HPT. The latter P277H mutation was identified in 
      two of three members tested from another family. Manifestations of MEN-1 syndrome 
      have also developed. The father now has developed diarrhea and elevated serum 
      gastrin; and the daughter has developed recurrent HPT. Genetic screening of 
      families who clinically have FIHP is important and may influence the type of 
      medical and surgical treatment and follow-up, as some have MEN-1 syndrome. 
      Long-term screening for MEN syndromes should be included in this set of patients. 
      Positive screening may predict disease and allow early detection and appropriate 
      treatment before initiation of symptoms.
FAU - Perrier, Nancy D
AU  - Perrier ND
AD  - Department of Surgery, Division of Surgical Oncology, Wake Forest University 
      Medical Center, Medical Center Boulevard, Winston-Salem, North Carolina 27157, 
      USA. nperrier@wfubmc.edu
FAU - Villablanca, Andrea
AU  - Villablanca A
FAU - Larsson, Catharina
AU  - Larsson C
FAU - Wong, Mariwil
AU  - Wong M
FAU - Ituarte, Philip
AU  - Ituarte P
FAU - Teh, Bin Tean
AU  - Teh BT
FAU - Clark, Orlo H
AU  - Clark OH
LA  - eng
GR  - T32/PHS HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20020521
PL  - United States
TA  - World J Surg
JT  - World journal of surgery
JID - 7704052
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Genetic Testing
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Hyperthyroidism/complications/*genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/complications/diagnosis/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - *Proto-Oncogene Proteins
EDAT- 2002/05/23 10:00
MHDA- 2002/12/04 04:00
CRDT- 2002/05/23 10:00
PHST- 2002/05/23 10:00 [pubmed]
PHST- 2002/12/04 04:00 [medline]
PHST- 2002/05/23 10:00 [entrez]
AID - 10.1007/s00268-002-6617-9 [doi]
PST - ppublish
SO  - World J Surg. 2002 Aug;26(8):907-13. doi: 10.1007/s00268-002-6617-9. Epub 2002 
      May 21.