title: Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
abstract: Juvenile polyposis syndrome is an autosomal dominant inherited disorder characterized by multiple juvenile polyps arising in the gastrointestinal tract and an increased risk of gastrointestinal cancers, specifically colon cancer. BMPR1A and SMAD4 germline mutations have been found in patients with juvenile polyposis syndrome. We identified a BMPR1A mutation, which involves a duplication of coding exon 3 (c.230+452_333+441dup1995), on multiple ligation dependent probe amplification in a patient with juvenile polyposis syndrome. The mutation causes a frameshift, producing a truncated protein (p.D112NfsX2). Therefore, the mutation is believed to be pathogenic. We also identified a duplication breakpoint in which Alu sequences are located. These results suggest that the duplication event resulted from recombination between Alu sequences. To our knowledge, partial duplication in the BMPR1A gene has not been reported previously. This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Junya
authors.initials: J
authors.lastname: Yamaguchi
authors.affiliation: Department of Gastroenterological Surgery, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Nagayama
authors.affiliation: Department of Gastroenterology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Akiko
authors.initials: A
authors.lastname: Chino
authors.affiliation: Division of Pathology, Cancer Institute, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Ai
authors.initials: A
authors.lastname: Sakata
authors.affiliation: Division of Pathology, Cancer Institute, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Noriko
authors.initials: N
authors.lastname: Yamamoto
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Yuumi
authors.initials: Y
authors.lastname: Ashihara
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Mizuho
authors.initials: M
authors.lastname: Kita
authors.affiliation: Department of Clinical Research, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
authors.forename: Sachio
authors.initials: S
authors.lastname: Nomura
authors.affiliation: Division of Pathology, Cancer Institute, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Ishikawa
authors.affiliation: Department of Gastroenterology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Igarashi
authors.affiliation: Department of Gastroenterological Surgery, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Masashi
authors.initials: M
authors.lastname: Ueno
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo marai@jfcr.or.jp.
authors.forename: Masami
authors.initials: M
authors.lastname: Arai
mesh_terms: D000293:Adolescent; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D005091:Exons; D016368:Frameshift Mutation; D020440:Gene Duplication; D018095:Germ-Line Mutation; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000235:genetics; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D051901:Smad4 Protein / Q000235:genetics*
chemical_list: C497796:SMAD4 protein, human; D051901:Smad4 Protein; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I
keywords: BMPR1A; colon cancer; duplication; juvenile polyposis syndrome