title: Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.
abstract: Juvenile polyposis (JP) is characterized by the development of multiple hamartomatous polyps and is inherited as an autosomal dominant trait. Germline mutations of the SMAD4 gene have been reported in JP. We have previously identified three SMAD4 germline mutations in five Korean JP patients. Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations. In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis. We found that one patient had a BMPR1A germline mutation without a SMAD4 mutation. This patient harbored a novel missense mutation (M470T) in exon 10. After close clinico-pathological examination, one patient who was previously diagnosed to have JP was excluded from the JP group. In total, all four Korean JP patients had either the SMAD4 or the BMPR1A mutation, with three having SMAD4 germline mutations and one carrying a BMPR1A germline mutation.
authors.affiliation: Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research Center and Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: I-J
authors.initials: IJ
authors.lastname: Kim
authors.forename: J-H
authors.initials: JH
authors.lastname: Park
authors.forename: H C
authors.initials: HC
authors.lastname: Kang
authors.forename: K-H
authors.initials: KH
authors.lastname: Kim
authors.forename: J-H
authors.initials: JH
authors.lastname: Kim
authors.forename: J-L
authors.initials: JL
authors.lastname: Ku
authors.forename: S-B
authors.initials: SB
authors.lastname: Kang
authors.forename: S Y
authors.initials: SY
authors.lastname: Park
authors.forename: J-S
authors.initials: JS
authors.lastname: Lee
authors.forename: J-G
authors.initials: JG
authors.lastname: Park
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000293:Adolescent; D052005:Bone Morphogenetic Protein Receptors, Type I; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D007723:Korea; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017978:Receptors, Growth Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA; D051901:Smad4 Protein; D015534:Trans-Activators / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D017978:Receptors, Growth Factor; C497796:SMAD4 protein, human; D051901:Smad4 Protein; D015534:Trans-Activators; D017346:Protein Serine-Threonine Kinases; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I