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Japanese Journal of Clinical Oncology 31:125-127 (2001)
© 2001 Foundation for Promotion of Cancer Research

A Novel Germline Mutation of the MEN1 Gene, L259del, in a Patient with Sporadic Multiple Endocrine Neoplasia Type 1 (MEN1)

Noritaka Hai1,2, Gen Muto3, Hiroomi Okamoto1, Aiko Tamada1, Ryuzo Abe3, Shinichi Suzuki4 and Shinji Kosugi1,5,+

1Department of Laboratory Medicine and 5Clinical Genetics Unit, Kyoto University School of Medicine, Kyoto, 2Second Division, Department of Internal Medicine, Kinki University School of Medicine, Osaka, 3Diabetes Center, Ohta Nishinouchi Hospital, Fukushima and 4Department of Surgery II, Fukushima Medical University, School of Medicine, Fukushima, Japan

A Japanese woman was treated for insulinoma when she was 29 years old. Ten years later, heperparathyroidism and non-functioning adrenal tumor were found and she was diagnosed as having multiple endocrine neoplasia type 1 (MEN1). No other family members have developed MEN-related lesion(s). Genomic DNA of the patient was analyzed by sequencing for the MEN1 gene and a novel, three-base in-frame deletion resulting in deletion of an amino acid Leu259 was identified. Her two children showed a wild-type sequence at this codon.

+ For reprints and all correspondence: Shinji Kosugi, Department of Laboratory Medicine and Clinical Genetics Unit, Kyoto University School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. E-mail: kosugi@kuhp.kyoto-u.ac.jp


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