Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth J K Bhoj, Laura M Bryant
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals...
April 27, 2024: European Journal of Human Genetics: EJHG