2018
DOI: 10.1016/j.chest.2017.09.023
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Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease

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Cited by 55 publications
(46 citation statements)
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“…11,12 Intriguingly, the penetrance of this specific founder mutation must be low, but if disease phenotypes based on this mutation appear, vascular diseases in several organs, at least in the brain and lung, are induced. 5,6 We previously reported one family with the RNF213 p.Arg4810Lys variant in which the mother developed PAH (Case #4), and her daughter exhibited Moyamoya disease, 3 suggesting the presence of RNF213-associated vascular diseases. A previous in vitro study demonstrated that angiogenic activities in induced pluripotent stem cells from patients with Moyamoya disease and RNF213 R4859K are reduced.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…11,12 Intriguingly, the penetrance of this specific founder mutation must be low, but if disease phenotypes based on this mutation appear, vascular diseases in several organs, at least in the brain and lung, are induced. 5,6 We previously reported one family with the RNF213 p.Arg4810Lys variant in which the mother developed PAH (Case #4), and her daughter exhibited Moyamoya disease, 3 suggesting the presence of RNF213-associated vascular diseases. A previous in vitro study demonstrated that angiogenic activities in induced pluripotent stem cells from patients with Moyamoya disease and RNF213 R4859K are reduced.…”
Section: Discussionmentioning
confidence: 99%
“…3 This RNF213 p.Arg4810Lys allele is well known to have a susceptive relationship with Moyamoya disease, a cerebral vascular disease, 4 and recent human studies, including our own, indicate that the RNF213 p.Arg4810Lys variant also confers a risk for extracranial vascular diseases, including peripheral pulmonary stenosis. 5,6 Previous in vitro studies demonstrated that this specific variant modifies the protein's function and lowers the angiogenic activity in endothelial cells. 7,8 These findings suggest that PAH can be added as a new member of RNF213-associated vascular diseases.…”
mentioning
confidence: 99%
“…Our patient's coronary angiography showed several areas where the vessel resembles a string of beads, which is best seen in the distal OM branch and distal RCA (Figures 3, 4, and 5). The string of bead appearance has been previously described in other vessels such as the peripheral pulmonary, renal, and carotid arteries as a direct result of intimal thickening [6]. This distinct pattern helps clinicians distinguish CAD in Moyamoya disease from CAD in the setting of atherosclerosis using coronary angiography.…”
Section: Discussionmentioning
confidence: 75%
“…The p.Arg4810Lys variant, commonly found in the Eastern Asian population, is thought to cause the classic intracranial vasculopathy when in the heterozygous state. However, individuals that possess the homozygous variant seem to develop systemic vasculopathy and more severe symptoms [6]. The link between the RNF variant, p.Arg4810Lys, and Moyamoya disease has potential to be a screening tool for the risk of systemic disease and disease severity.…”
Section: Discussionmentioning
confidence: 99%
“…7 The phenotypic heterogeneity described among patients with an RNF213 p.Arg4810Lys mutation is also notable, as different vascular circuits may be affected, and abnormalities are reported across different caliber vessels within the pulmonary vasculature. 8 This, in and of itself, is not unique; the BMPR2 germline mutations have been reported in patients with PAH as well as pulmonary venoocclusive disease, 9 which are distinct vascular entities. Yet, divergence in the clinical phenotype associated with the same genetic variant reinforces the need for greater study on environmental cues or other acquired factors that interact with the genetic basis of disease.…”
mentioning
confidence: 99%