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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Acknowledgements
This work was supported in part by a Health and Labour Sciences Research Grant from the Ministry of Health, Labour and Welfare of Japan, by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology, by a Grant from the Medical Department Collaborative Project of Kyorin University and by a Fellowship from Kyorin University School of Health Sciences.
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Aimi, Y., Hirayama, T., Kataoka, M. et al. A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension. J Hum Genet 58, 815–818 (2013). https://doi.org/10.1038/jhg.2013.100
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DOI: https://doi.org/10.1038/jhg.2013.100
