Article
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
American journal of human genetics - 6 Mar 2025
Zerafati-Jahromi Gazelle, Oxman Elias, Hoang Hieu D, Charng Wu-Lin, Kotla Tanvitha, Yuan Weimin, Ishibashi Keito, Sebaoui Sonia, Luedtke Kathryn, Winrow Bryce, Ganetzky Rebecca D, Ruiz Anna, Manso-Basúz Carmen, Spataro Nino, Kannu Peter, Athey Taryn, Peroutka Christina, Barnes Caitlin, Sidlow Richard, Anadiotis George, Magnussen Kari, Valenzuela Irene, Moles-Fernandez Alejandro, Berger Seth, Grant Christina L, Vilain Eric, Arnadottir Gudny A, Sulem Patrick, Sulem Telma S, Stefansson Kari, Massey Shavonne, Ginn Natalie, Poduri Annapurna, D'Gama Alissa M, Valentine Rozalia, Trowbridge Sara K, Murali Chaya N, Franciskovich Rachel, Tran Yen, Webb Bryn D, Keppler-Noreuil Kim M, Hall April L, McGivern Bobbi, Monaghan Kristin G, Guillen Sacoto Maria J, Baldridge Dustin, Silverman Gary A, Dahiya Sonika, Turner Tychele N, Schedl Tim, Corbin Joshua G, Pak Stephen C, Zohn Irene E, Gurnett Christina A
Abstract excerpt
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1...
Read the complete abstract on PubMed