PMID- 19174080
OWN - NLM
STAT- MEDLINE
DCOM- 20090420
LR  - 20090128
IS  - 0210-5705 (Print)
IS  - 0210-5705 (Linking)
VI  - 31
IP  - 10
DP  - 2008 Dec
TI  - [Clinical and molecular features in a family with multiple endocrine neoplasia 
      type-1 syndrome].
PG  - 637-42
LID - 10.1016/S0210-5705(08)75811-4 [doi]
AB  - BACKGROUND: The clinical features of multiple endocrine neoplasia type-1 (MEN-1) 
      syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma 
      and gastroenteropancreatic endocrine tumors. This syndrome is due to mutations in 
      the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on 
      tumoral growth and metastatic potential. PATIENTS AND METHOD: We reviewed the 
      medical records of the members of a family (6 men and 2 women) with MEN-1 
      syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian 
      (Spain). Familial study of all patients and family members (19 cases from 2 
      generations) was performed in 2 phases. The first phase consisted of mutation 
      screening and the second of multiplex ligation-dependent probe amplification 
      (MLPA) to detect deletions. RESULTS: Screening of mutations identified no 
      pathogenic variants in the proband of this family. MLPA revealed a deletion 
      affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this 
      molecular alteration, 8 had at least one phenotypic feature of this syndrome 
      (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 
      years of follow-up. CONCLUSION: We discuss the clinical forms of MEN-1 syndrome 
      in this family and the molecular alteration found. Study of MEN1 gene deletions 
      should be incorporated into routine molecular screening.
FAU - Cosme, Angel
AU  - Cosme A
AD  - Servicio de Aparato Digestivo, Hospital Donostia, CIBEREHD, Universidad del Pais 
      Vasco, San Sebastian, Guipuzcoa, Spain. acosme@chdo.osakidetza.net
FAU - Alvarez, Mariano
AU  - Alvarez M
FAU - Beguiristain, Adolfo
AU  - Beguiristain A
FAU - Cobo, Ana Maria
AU  - Cobo AM
FAU - Robledo, Mercedes
AU  - Robledo M
FAU - Aranzadi, Maria Jesus
AU  - Aranzadi MJ
FAU - Ojeda, Evelia
AU  - Ojeda E
FAU - Bujanda, Luis
AU  - Bujanda L
FAU - Goikoetxea, Unai
AU  - Goikoetxea U
LA  - spa
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Caracteristicas clinicas y moleculares de una familia con sindrome de neoplasia 
      endocrina multiple tipo 1.
DEP - 20090107
PL  - Spain
TA  - Gastroenterol Hepatol
JT  - Gastroenterologia y hepatologia
JID - 8406671
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Gene Deletion
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2009/01/29 09:00
MHDA- 2009/04/21 09:00
CRDT- 2009/01/29 09:00
PHST- 2008/04/28 00:00 [received]
PHST- 2008/05/20 00:00 [accepted]
PHST- 2009/01/29 09:00 [entrez]
PHST- 2009/01/29 09:00 [pubmed]
PHST- 2009/04/21 09:00 [medline]
AID - S0210-5705(08)75811-4 [pii]
AID - 10.1016/S0210-5705(08)75811-4 [doi]
PST - ppublish
SO  - Gastroenterol Hepatol. 2008 Dec;31(10):637-42. doi: 
      10.1016/S0210-5705(08)75811-4. Epub 2009 Jan 7.