Article
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
American journal of human genetics - 3 Jun 2021
Ziegler Alban, Duclaux-Loras Rémi, Revenu Céline, Charbit-Henrion Fabienne, Begue Bernadette, Duroure Karine, Grimaud Linda, Guihot Anne Laure, Desquiret-Dumas Valérie, Zarhrate Mohammed, Cagnard Nicolas, Mas Emmanuel, Breton Anne, Edouard Thomas, Billon Clarisse, Frank Michael, Colin Estelle, Lenaers Guy, Henrion Daniel, Lyonnet Stanislas, Faivre Laurence, Alembik Yves, Philippe Anaïs, Moulin Bruno, Reinstein Eyal, Tzur Shay, Attali Ruben, McGillivray George, White Susan M, Gallacher Lyndon, Kutsche Kerstin, Schneeberger Pauline, Girisha Katta M, Nayak Shalini S, Pais Lynn, Maroofian Reza, Rad Aboulfazl, Vona Barbara, Karimiani Ehsan Ghayoor, Lekszas Caroline, Haaf Thomas, Martin Ludovic, Ruemmele Frank, Bonneau Dominique, Cerf-Bensussan Nadine, Del Bene Filippo, Parlato Marianna
Abstract excerpt
Dysregulated transforming growth factor TGF-β signaling underlies the pathogenesis of genetic disorders affecting the connective tissue such as Loeys-Dietz syndrome. Here, we report 12 individuals with bi-allelic loss-of-function variants in IPO8 who presented with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental...
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