Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.

doi:10.1093/cvr/cvaa161

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Article

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.

Cardiovascular research - 21 Mar 2021

Georges Adrien, Albuisson Juliette, Berrandou Takiy, Dupré Délia, Lorthioir Aurélien, D'Escamard Valentina, Di Narzo Antonio F, Kadian-Dodov Daniella, Olin Jeffrey W, Warchol-Celinska Ewa, Prejbisz Aleksander, Januszewicz Andrzej, Bruneval Patrick, Baranowska Anna A, Webb Tom R, Hamby Stephen E, Samani Nilesh J, Adlam David, Fendrikova-Mahlay Natalia, Hazen Stanley, Wang Yu, Yang Min-Lee, Hunker Kristina, Combaret Nicolas, Motreff Pascal, Chédid Antoine, Fiquet Béatrice, Plouin Pierre-François, Mousseaux Elie, Azarine Arshid, Amar Laurence, Azizi Michel, Gornik Heather L, Ganesh Santhi K, Kovacic Jason C, Jeunemaitre Xavier, Bouatia-Naji Nabila

Abstract excerpt

AIMS: Fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. We aimed to identify rare genetic causes to elucidate molecular mechanisms implicated in FMD and SCAD. METHODS AND RESULTS: We analysed 29 exomes that included familial and sporadic...

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PMID: 32531060
DOI: 10.1093/cvr/cvaa161
PMCID: PMC7983006

Genes

PTGIR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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