A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension

Yuki Aimi, Tomomi Hirayama, Masaharu Kataoka, Yuichi Momose, Saiko Nishimaki, Kenichi Matsushita, Hideaki Yoshino, Toru Satoh, Shinobu Gamou

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)815-818
Number of pages4
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - 2013 Dec 1
Externally publishedYes


  • Bone morphogenetic protein type 2 receptor
  • Copy number variation
  • Exon deletion
  • Pulmonary arterial hypertension

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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