Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. Here, we report eight heterozygous de novo variants (one frameshift, two splice site, and five missense) in the gene encoding the BAF complex subunit double plant homeodomain finger 2 (DPF2).

Source: The American Journal of Human Genetics - February 8, 2018 Category: Genetics & Stem Cells Authors: Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian B üttner, Arif B. Ekici, Marion Gerard, Nuria C. Bramswig, Beate Albrecht, Jill Clayton-Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altm Tags: Report Source Type: research