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Japanese Journal of Clinical Oncology Advance Access published online on May 19, 2006
Japanese Journal of Clinical Oncology, doi:10.1093/jjco/hyl023
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© 2006 Foundation for Promotion of Cancer Research
Received February 10, 2006
Accepted March 23, 2006

Cancer Genetics Report

Novel 14 Base-Pair Deletion of the MEN1 Gene in a Patient with Recurrent Primary Hyperparathyroidism

Miyuki Katai 1, Akihiro Sakurai 2 *, Shinya Uchino 3, Kesami Minemura 4, Kiyoshi Hashizume 1, and Yoshimitsu Fukushima 5

1 Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
2 Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan; Department of Preventive Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
3 Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan
4 Shinonoi General Hospital, Nagano, Japan
5 Department of Preventive Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, Japan

* To whom correspondence should be addressed.
Akihiro Sakurai, E-mail: sakurai{at}sch.md.shinshu-u.ac.jp


  Abstract

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. In this article we report a novel deletional mutation involving 14 bp in exon 6 of the MEN1gene which was identified in a Japanese woman with apparently sporadic recurrent hyperparathyroidism. This mutation has not previously been described elsewhere.

Keywords: multiple endocrine neoplasia type 1; mutation; parathyroid hyperplasia.
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