BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.

@article{Aldred2006BMPR2GR,
  title={BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.},
  author={Micheala A Aldred and Jairam Vijayakrishnan and Victoria James and Florent Soubrier and Miguel {\'A}ngel G{\'o}mez-S{\'a}nchez and Gunnar M{\aa}rtensson and Nazzereno Gali{\`e} and Alessandra Manes and Paul A. Corris and G{\'e}rald Simonneau and Marc Humbert and Nicholas W Morrell and Richard C Trembath},
  journal={Human mutation},
  year={2006},
  volume={27 2},
  pages={212-3}
}
Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of familial cases and between 10% and 40% of cases without a family history (idiopathic or IPAH). We therefore conducted a systematic analysis for larger gene rearrangements in panels of both familial and… CONTINUE READING