作者
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscó, Julian A Martinez-Agosto, Ahna M Rabani, Heather C Mefford, Elaine M Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J Prijoles, Amy Dobson, Amelle Shillington, Brett H Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G Ropers, Esther AR Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs WE Santen, Markus Zweier, Philippe M Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou
发表日期
2023/11/1
期刊
Genetics in Medicine
卷号
25
期号
11
页码范围
100950
出版商
Elsevier
简介
Purpose
Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.
Methods
Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF-subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays.
Results
Neurodevelopmental delay with intellectual disability, muscular hypotonia, and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare …
学术搜索中的文章
E Bosch, B Popp, E Güse, C Skinner, PJ van der Sluijs… - Genetics in Medicine, 2023