Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

Authors: Victoria Patterson, Farid Ullah, Laura Bryant, Dong Li, John N. Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita S. Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K. Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen Mulhern, Elaine Zackai, Alyssa Ritter, Kosuke Izumi, Julia Hoefele, Matias Wagner, Korbinian M. Riedhammer, Barbara Seitz, Nathaniel H. Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frederic Tran Mau-Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju Mehta, F. Lucy Raymond, Kelly Gilmore, Bradford C. Powell, Karen Weck, Chumei Li, Anneke T. Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L. Vora, Erica E. Davis, Rebecca D. Burdine, Elizabeth Bhoj

Published: 2023-04-26

DOI: 10.1126/sciadv.ade0631

Source: Full article


Abstract

We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in