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Japanese Journal of Clinical Oncology 32:368-370 (2002)
© 2002 Foundation for Promotion of Cancer Research

A Novel Six-nucleotide Insertion in Exon 4 of the MEN1 Gene, 878insCTGCAG, in Three Patients with Familial Insulinoma and Primary Hyperparathyroidism

Hiroomi Okamoto1, Aiko Tamada2, Noritaka Hai1, Masaru Doi3, Isao Uchimura3, Yukio Hirata3 and Shinji Kosugi1,2,+

Departments of 1 Laboratory Medicine and 2 Clinical Genetics, Kyoto University Graduate School of Medicine, Kyoto and 3 Department of Clinical and Molecular Endocrinology, Tokyo Medical and Dental University Graduate School, Tokyo, Japan

Three Japanese patients (a man and his two sons) in a family with clinical diagnosis of familial multiple endocrine neoplasia type 1 (MEN1) suffered from insulinoma(s), primary hyperparathyroidism and pituitary microadenoma. Genomic DNA of the patients was analyzed by sequencing for the MEN1 gene and an insertion of six nucleotides, CTGCAG, in exon 4, resulting in insertion of two amino acids, Leu–Gln, after the 256th amino acid of the menin (256insLQ), was identified. CTGCAG is a palindromic sequence and repeated twice in the wild-type allele (nucleotides 879–890). It is speculated that mutations involving only exon 4 of the MEN1 gene might induce development of insulinoma(s).

+ For reprints and all correspondence: Shinji Kosugi, Department of Clinical Genetics and Department of Laboratory Medicine, Kyoto University Graduate 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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