PMID- 16840830
OWN - NLM
STAT- MEDLINE
DCOM- 20060824
LR  - 20181113
IS  - 0391-4097 (Print)
IS  - 0391-4097 (Linking)
VI  - 29
IP  - 6
DP  - 2006 Jun
TI  - Two novel mutations in the MEN1 gene in subjects with multiple endocrine 
      neoplasia-1.
PG  - 523-7
AB  - Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, 
      enteropancreatic endocrine and pituitary adenomas as well as germline mutation of 
      the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the MEN1 
      gene. One family was of Turkish origin, and the index patient had primary 
      hyperparathyroidism (PHPT) plus a prolactinoma; three relatives had PHPT only. 
      The index patient in the second family was a 46-yr-old woman of Chinese origin 
      living in Taiwan. This patient presented with a complaint of epigastric pain and 
      watery diarrhea over the past 3 months, and had undergone subtotal 
      parathyroidectomy and enucleation of pancreatic islet cell tumor about 10 yr 
      before. There was also a prolactinoma. Sequence analysis of the MEN1 gene from 
      leukocyte genomic DNA revealed heterozygous mutations in both probands. The 
      Turkish patient and her affected relatives all had a heterozygous A to G 
      transition at codon 557 (AAG-->GAG) of exon 10 of MEN1 that results in a 
      replacement of lysine by glutamic acid. The Chinese index patient and one of her 
      siblings had a heterozygous mutation at codon 418 of exon 9 (GAC-->TAT) that 
      results in a substitution of aspartic acid by tyrosine. In conclusion, we have 
      identified 2 novel missense mutations in the MEN1 gene.
FAU - Ozturk, M
AU  - Ozturk M
AD  - Department of Endocrinology, Faculty of Medicine, Yuzuncu Yil University, Van, 
      Turkey.
FAU - Chiu, C Y
AU  - Chiu CY
FAU - Akdeniz, N
AU  - Akdeniz N
FAU - Jenq, S F
AU  - Jenq SF
FAU - Chang, S C
AU  - Chang SC
FAU - Hsa, C Y
AU  - Hsa CY
FAU - Jap, T S
AU  - Jap TS
LA  - eng
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  - Adenoma/genetics
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Amino Acid Sequence
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism, Primary/genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation, Missense
MH  - Parathyroid Neoplasms/genetics
MH  - Pituitary Neoplasms/genetics
MH  - Prolactinoma/genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Taiwan
MH  - Turkey
EDAT- 2006/07/15 09:00
MHDA- 2006/08/25 09:00
CRDT- 2006/07/15 09:00
PHST- 2006/07/15 09:00 [pubmed]
PHST- 2006/08/25 09:00 [medline]
PHST- 2006/07/15 09:00 [entrez]
AID - 1512 [pii]
AID - 10.1007/BF03344142 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2006 Jun;29(6):523-7. doi: 10.1007/BF03344142.