title: A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.
abstract: We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG>AT) that cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease.
authors.affiliation: Department of Surgery, University of Iowa Carver College of Medicine, 4644 JCP, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242-1086, USA. james-howe@uiowa.edu
authors.forename: James R
authors.initials: JR
authors.lastname: Howe
authors.forename: Sathivel
authors.initials: S
authors.lastname: Chinnathambi
authors.forename: Daniel
authors.initials: D
authors.lastname: Calva
authors.forename: Jennifer
authors.initials: J
authors.lastname: Bair
authors.forename: Brenda
authors.initials: B
authors.lastname: Pechman
authors.forename: Agnes
authors.initials: A
authors.lastname: Salamon
authors.forename: Beatrix
authors.initials: B
authors.lastname: Tam
authors.forename: László
authors.initials: L
authors.lastname: Simon
mesh_terms: D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D003110:Colonic Neoplasms / Q000235:genetics*; D017931:DNA Primers; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D006801:Humans; D044483:Intestinal Polyposis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011230:Precancerous Conditions / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I