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Little is known about their physiopathological mechanisms. We aimed to identify rare genetic causes to elucidate molecular mechanisms implicated in FMD and SCAD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>We analysed 29 exomes that included familial and sporadic FMD. We identified one rare loss-of-function variant (LoF) (frequencygnomAD = 0.000075) shared by two FMD sisters in the prostaglandin I2 receptor gene (PTGIR), a key player in vascular remodelling. Follow-up was conducted by targeted or Sanger sequencing (1071 FMD and 363 SCAD patients) or lookups in exome (264 FMD) or genome sequences (480 SCAD), all independent and unrelated. It revealed four additional LoF allele carriers, in addition to several rare missense variants, among FMD patients, and two LoF allele carriers among SCAD patients, including one carrying a rare splicing mutation (c.768\u2009+\u20091C&amp;gt;G). We used burden test to test for enrichment in patients compared to gnomAD controls, which detected a putative enrichment in FMD (PTRAPD = 8\u2009\u00d7\u200910\u22124), but not a significant enrichment (PTRAPD\u2009=\u20090.12) in SCAD. The biological effects of variants on human prostaclycin receptor (hIP) signalling and protein expression were characterized using transient overexpression in human cells. We confirmed the LoFs (Q163X and P17RfsX6) and one missense (L67P), identified in one FMD and one SCAD patient, to severely impair hIP function in vitro.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our study shows that rare genetic mutations in PTGIR are enriched among FMD patients and found in SCAD patients, suggesting a role for prostacyclin signalling in non-atherosclerotic stenosis and dissection.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/cvr\/cvaa161","type":"journal-article","created":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T15:06:57Z","timestamp":1591542417000},"page":"1154-1165","source":"Crossref","is-referenced-by-count":31,"title":["Rare loss-of-function mutations of\n                    <i>PTGIR<\/i>\n                    are enriched in fibromuscular dysplasia"],"prefix":"10.1093","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4208-2393","authenticated-orcid":false,"given":"Adrien","family":"Georges","sequence":"first","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8947-6499","authenticated-orcid":false,"given":"Juliette","family":"Albuisson","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"},{"name":"Department of Genetics, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0525-3002","authenticated-orcid":false,"given":"Takiy","family":"Berrandou","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9lia","family":"Dupr\u00e9","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2890-6544","authenticated-orcid":false,"given":"Aur\u00e9lien","family":"Lorthioir","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"D\u2019Escamard","sequence":"additional","affiliation":[{"name":"The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4033-5038","authenticated-orcid":false,"given":"Antonio F","family":"Di Narzo","sequence":"additional","affiliation":[{"name":"The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6748-7728","authenticated-orcid":false,"given":"Daniella","family":"Kadian-Dodov","sequence":"additional","affiliation":[{"name":"The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W","family":"Olin","sequence":"additional","affiliation":[{"name":"The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Warchol-Celinska","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7085-0244","authenticated-orcid":false,"given":"Aleksander","family":"Prejbisz","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Januszewicz","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2350-2914","authenticated-orcid":false,"given":"Patrick","family":"Bruneval","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0827-6792","authenticated-orcid":false,"given":"Anna A","family":"Baranowska","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE5 4PW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5998-8226","authenticated-orcid":false,"given":"Tom R","family":"Webb","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE5 4PW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6215-5791","authenticated-orcid":false,"given":"Stephen E","family":"Hamby","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE5 4PW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilesh J","family":"Samani","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE5 4PW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Adlam","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE5 4PW, 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Arbor, MI 48109-5618, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Lee","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109-5856, USA"},{"name":"Division of Cardiovascular Medicine, Department of Human Genetics, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109-5618, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Hunker","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109-5856, USA"},{"name":"Division of Cardiovascular Medicine, Department of Human Genetics, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109-5618, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4905-0765","authenticated-orcid":false,"given":"Nicolas","family":"Combaret","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Hospital of Clermont-Ferrand, Auvergne University, F-63003 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Motreff","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Hospital of Clermont-Ferrand, Auvergne University, F-63003 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Ch\u00e9did","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Fiquet","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Fran\u00e7ois","family":"Plouin","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8076-1445","authenticated-orcid":false,"given":"Elie","family":"Mousseaux","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"},{"name":"Department of Radiology, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4045-822X","authenticated-orcid":false,"given":"Arshid","family":"Azarine","sequence":"additional","affiliation":[{"name":"Department of Radiology, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Amar","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"},{"name":"Department of Hypertension, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Azizi","sequence":"additional","affiliation":[{"name":"Department of Hypertension, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"},{"name":"Universit\u00e9 de Paris, Inserm CIC1418, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather L","family":"Gornik","sequence":"additional","affiliation":[{"name":"University Hospitals Harrington Heart and Vascular Institute, University Hospitals and Case Western Reserve University, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santhi K","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109-5856, USA"},{"name":"Division of Cardiovascular Medicine, Department of Human Genetics, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109-5618, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4555-769X","authenticated-orcid":false,"given":"Jason C","family":"Kovacic","sequence":"additional","affiliation":[{"name":"The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia"},{"name":"St Vincent's Clinical School, University of NSW, Darlinghurst, NSW 2010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"},{"name":"Department of Genetics, Assistance-publique-h\u00f4pitaux de Paris, Hopital Europ\u00e9en Georges Pompidou, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5424-2134","authenticated-orcid":false,"given":"Nabila","family":"Bouatia-Naji","sequence":"additional","affiliation":[{"name":"Paris Cardiovascular Research Center, Inserm, Universit\u00e9 de Paris, 56 Rue Leblanc, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,6,12]]},"reference":[{"key":"2021032208552403700_cvaa161-B1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1177\/1358863X18821816","article-title":"First international consensus on the diagnosis and management of fibromuscular dysplasia","volume":"24","author":"Gornik","year":"2019","journal-title":"Vasc Med"},{"key":"2021032208552403700_cvaa161-B2","doi-asserted-by":"crossref","first-page":"3182","DOI":"10.1161\/CIRCULATIONAHA.112.091223","article-title":"The United States Registry for fibromuscular dysplasia: results in the first 447 patients","volume":"125","author":"Olin","year":"2012","journal-title":"Circulation"},{"key":"2021032208552403700_cvaa161-B3","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1001\/archsurg.1975.01360110107018","article-title":"Arterial fibrodysplasia. 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