title: A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.
abstract: 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).
authors.affiliation: Department of Laboratory Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Hiroomi
authors.initials: H
authors.lastname: Okamoto
authors.forename: Aiko
authors.initials: A
authors.lastname: Tamada
authors.forename: Noritaka
authors.initials: N
authors.lastname: Hai
authors.forename: Masaru
authors.initials: M
authors.lastname: Doi
authors.forename: Isao
authors.initials: I
authors.lastname: Uchimura
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hirata
authors.forename: Shinji
authors.initials: S
authors.lastname: Kosugi
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007340:Insulinoma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009711:Nucleotides / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D009711:Nucleotides