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

ABSTRACT: 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). Affected individuals share common clinical features described in individuals with Coffin-Siris syndrome, including coarse facial features, global developmental delay, intellectual disability, speech impairment, and hypoplasia of fingernai

SUBMITTER: Vasileiou G 

PROVIDER: S-EPMC5985265 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature