PMID- 15717658
OWN - NLM
STAT- MEDLINE
DCOM- 20050524
LR  - 20181113
IS  - 0391-4097 (Print)
IS  - 0391-4097 (Linking)
VI  - 27
IP  - 6
DP  - 2004 Jun
TI  - A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple 
      endocrine tumors.
PG  - 577-82
AB  - Germline mutations of the MEN 1 gene are responsible for multiple endocrine 
      neoplasia type 1 (MEN 1), a dominantly inherited cancer syndrome characterized by 
      tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior 
      pituitary and other endocrine tissues. We report on a 55-yr old woman, presenting 
      with active acromegaly (due to GH-secreting microadenoma), associated to 
      bilateral adrenal adenomatosis and Hurthle-cell thyroid neoplasia. No evidence of 
      hyperparathyroidism or gastrin-secreting tumor was found. Peripheral blood 
      genomic DNA was extracted, amplified by PCR, purified and analyzed by direct 
      sequencing. The analysis revealed a heterozygous mutation in exon 4 of the MEN 1 
      gene: a G to A missense mutation at codon 229 (CGC-->CAC), which changes arginine 
      to histidine. This mutation causes loss of the Hhal restriction site and can thus 
      be employed for a rapid familiar screening. This case represents a newly 
      recognized germline mutation of the MEN 1 gene.
FAU - Pinna, G
AU  - Pinna G
AD  - University of Cagliari, Cagliari, Italy.
FAU - Orgiana, G
AU  - Orgiana G
FAU - Carcassi, C
AU  - Carcassi C
FAU - Alba, F
AU  - Alba F
FAU - Cetani, F
AU  - Cetani F
FAU - Pardi, E
AU  - Pardi E
FAU - Marcocci, C
AU  - Marcocci C
FAU - Mariotti, S
AU  - Mariotti S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Acromegaly/*genetics
MH  - Adenoma/genetics
MH  - Adrenal Gland Neoplasms/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2005/02/19 09:00
MHDA- 2005/05/25 09:00
CRDT- 2005/02/19 09:00
PHST- 2005/02/19 09:00 [pubmed]
PHST- 2005/05/25 09:00 [medline]
PHST- 2005/02/19 09:00 [entrez]
AID - 5284 [pii]
AID - 10.1007/BF03347483 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2004 Jun;27(6):577-82. doi: 10.1007/BF03347483.