A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis

Cancer Genet Cytogenet. 2008 Feb;181(1):52-4. doi: 10.1016/j.cancergencyto.2007.11.001.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Morphogenetic Protein Receptors, Type I / genetics*
  • Child, Preschool
  • Codon, Nonsense*
  • Colonic Neoplasms / genetics*
  • DNA Primers
  • Family
  • Female
  • Follow-Up Studies
  • Germ-Line Mutation
  • Humans
  • Intestinal Polyposis / genetics*
  • Male
  • Pedigree
  • Precancerous Conditions / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Codon, Nonsense
  • DNA Primers
  • BMPR1A protein, human
  • Bone Morphogenetic Protein Receptors, Type I