Article
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
American journal of human genetics - 6 Nov 2025
Erkut Esra, Somerville Cherith, Schwartz Marci L B, McDonald Laura, Ding Qiliang, Moran Olivia M, Chen Xin, Manshaei Roozbeh, Riedijk Anne-Sophie, Schnürer Marie-Therese, Koboldt Daniel C, Antonarakis Stylianos E, Bedoukian Emma C, Blanc Xavier, Conlin Laura K, Cox Helen, Diderich Karin E M, Dingmann Bri, Dubourg Christèle, Elmslie Frances, Escobar Luis F, Gosselin Rachel, Guillen Sacoto Maria J, Haag Cynthia D, Herzig Lisa, Jeeneea Ramanand, Kenia Priti, Kolokotronis Konstantinos, Kopps Anna M, Kupper Christin, Lees Hayley, Leonard Jacqueline, Levy Jonathan, Littlejohn Rebecca, Mayer Demian, McLean Scott D, Pattani Nikhil, Perrin Laurence, Pingault Véronique, Quelin Chloé, Ranza Emmanuelle, Rauch Anita, Reichert Sara L, Rosmaninho-Salgado Joana, Skraban Cara, Sousa Sérgio, Stuebben Melissa, Zanoni Paolo, Kim Raymond H, Scott Ian C, Jobling Rebekah K
Abstract excerpt
Syndromic cardiac malformations can result in morbidity, yet their genetic etiology is only understood for a subset of individuals. Genome sequencing efforts in congenital anomaly cohorts may identify disease-associated variants in previously unrecognized genes. Through international matchmaking efforts, we identified eighteen individuals in total with de novo or loss-of-function variants in EIF3A (n = 4) or...
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