AI Article Synopsis
- - The study identified genetic rearrangements in the BMPR2 gene associated with pulmonary arterial hypertension (PAH), specifically through the deletion or duplication of its exons.
- - Researchers examined two familial PAH cases in Japan with exonic deletions, finding these were Alu-mediated through different recombination processes.
- - A report of a third case involved a 25-year-old female with a unique deletion of BMPR2 exon 3, which was not linked to Alu sequences and resulted in a 759-bp deletion, suggesting it could represent a novel genetic alteration distinct from previous cases.
Article 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.
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| http://dx.doi.org/10.1038/jhg.2013.100 | DOI Listing |
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