title: Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1.
abstract: Multiple endocrine neoplasia type 1 (MEN 1) is characterised by the combination of tumours of the parathyroid, endocrine pancreas and anterior pituitary glands. In 1988 the MEN 1 gene was mapped to chromosome 11q13 and it was cloned in 1997. This gene contains 10 exons and extends across 9 Kb of genomic DNA; it encodes for a product of 610 amino acid named menin whose function is unknown. We have studied 10 unrelated MEN 1 kindreds by a complete sequencing analysis of the entire gene; mutations were identified in nine of them: five deletions, one insertion, two nonsense mutation and a complex alteration consisting of a deletion and an insertion that can be explained by a hairpin loop model. Two of the mutations have been previously described; the other seven were novel, and they were scattered throughout the coding sequence of the gene. As in previous series, no correlation was found between phenotype and genotype.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Cebrián
authors.forename: J L
authors.initials: JL
authors.lastname: Herrera-Pombo
authors.forename: J J
authors.initials: JJ
authors.lastname: Díez
authors.forename: O
authors.initials: O
authors.lastname: Sánchez-Vilar
authors.forename: J I
authors.initials: JI
authors.lastname: Lara
authors.forename: C
authors.initials: C
authors.lastname: Vázquez
authors.forename: A
authors.initials: A
authors.lastname: Picó
authors.forename: A
authors.initials: A
authors.lastname: Osorio
authors.forename: B
authors.initials: B
authors.lastname: Martínez-Delgado
authors.forename: J
authors.initials: J
authors.lastname: Benítez
authors.forename: M
authors.initials: M
authors.lastname: Robledo
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000208:ethnology / Q000235:genetics*; D009690:Nucleic Acid Conformation; D013030:Spain
chemical_list: D004247:DNA