title: A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension.
abstract: The presence of genetic rearrangements of bone morphogenetic protein type 2 receptor (BMPR2) was identified in pulmonary arterial hypertension (PAH) patients as the deletion or duplication of one or more exons of the gene. We recently investigated the deletion break points in exonic deletions of BMPR2 in two Japanese familial cases with PAH, and found that these were Alu-mediated via either non-allelic homologous recombination or non-homologous recombination. We herein report the third case of exonic deletion, which was in a 25-year-old female PAH patient with a deletion of BMPR2 exon 3. The break point in this case was not located in an Alu sequence. The 5'- and 3'-break point maps between the inverted Alu sequences in intron 2 and in exon 3, respectively, resulted in a 759-bp deletion. This novel exonic deletion in this PAH case may be a unique and non-recurrent rearrangement, and appears to be of a different size from that in other patients.
authors.affiliation: 1] Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan [2] Department of Molecular Biology, Kyorin University School of Health Science, Tokyo, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Aimi
authors.affiliation: 1] Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan [2] Department of Molecular Biology, Kyorin University School of Health Science, Tokyo, Japan.
authors.forename: Tomomi
authors.initials: T
authors.lastname: Hirayama
authors.affiliation: Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Kataoka
authors.affiliation: Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Momose
authors.affiliation: Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: Saiko
authors.initials: S
authors.lastname: Nishimaki
authors.affiliation: Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Matsushita
authors.affiliation: Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Yoshino
authors.affiliation: Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Satoh
authors.affiliation: Department of Molecular Biology, Kyorin University School of Health Science, Tokyo, Japan.
authors.forename: Shinobu
authors.initials: S
authors.lastname: Gamou
mesh_terms: D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D065627:Familial Primary Pulmonary Hypertension; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II