PMID- 16714299
OWN - NLM
STAT- MEDLINE
DCOM- 20060915
LR  - 20060704
IS  - 0368-2811 (Print)
IS  - 0368-2811 (Linking)
VI  - 36
IP  - 6
DP  - 2006 Jun
TI  - Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary 
      hyperparathyroidism.
PG  - 395-7
AB  - MEN1 is the causative gene for multiple endocrine neoplasia type 1 (MEN1), a 
      hereditary syndrome characterized by hyperplastic and neoplastic disorder of 
      endocrine organs such as parathyroid, anterior pituitary and 
      gastroenteropancreatic endocrine tissues. More than 300 germline mutations have 
      already been reported in patients with MEN1. We here report a novel deletional 
      mutation identified in a Japanese woman with apparently sporadic recurrent 
      hyperparathyroidism. Genetic testing revealed a heterozygous deletion involving 
      14 bp in exon 6 (starting at amino acid codon 293) of MEN1, which results in 
      early termination of the protein. This deletional mutation has not previously 
      been described elsewhere.
FAU - Katai, Miyuki
AU  - Katai M
AD  - Department of Aging Medicine and Geriatrics, Shinshu University School of 
      Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
FAU - Sakurai, Akihiro
AU  - Sakurai A
FAU - Uchino, Shinya
AU  - Uchino S
FAU - Minemura, Kesami
AU  - Minemura K
FAU - Hashizume, Kiyoshi
AU  - Hashizume K
FAU - Fukushima, Yoshimitsu
AU  - Fukushima Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20060519
PL  - England
TA  - Jpn J Clin Oncol
JT  - Japanese journal of clinical oncology
JID - 0313225
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Base Pairing
MH  - Female
MH  - Frameshift Mutation
MH  - Gene Deletion
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Hypercalcemia/diagnosis
MH  - Hyperparathyroidism, Primary/*genetics
MH  - Hyperplasia
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Parathyroid Glands/*pathology
MH  - Parathyroidectomy
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Proteins/*genetics
MH  - Recurrence
EDAT- 2006/05/23 09:00
MHDA- 2006/09/16 09:00
CRDT- 2006/05/23 09:00
PHST- 2006/05/23 09:00 [pubmed]
PHST- 2006/09/16 09:00 [medline]
PHST- 2006/05/23 09:00 [entrez]
AID - hyl023 [pii]
AID - 10.1093/jjco/hyl023 [doi]
PST - ppublish
SO  - Jpn J Clin Oncol. 2006 Jun;36(6):395-7. doi: 10.1093/jjco/hyl023. Epub 2006 May 
      19.