2 documents found, page 1 of 1
UBR5 Loss-of-function Variants In Autism Spectrum Disorder And Intellectual Dis...
Reuter, Miriam S.; Salazar, Nelson Bautista; Howe, Jennifer L.; Hoang, Ny; Sarikaya, Ege; Selvanayagam, Thanuja; Mendes de Aquino, MarlaUBR5 encodes an E3 ubiquitin-protein ligase which targets distinct N-terminal residues of proteins for degradation. Heterozygous loss-of-function variants were reported in patients with Autism Spectrum Disorder (ASD) and developmental delay, and recently in a cohort of individuals with neurodevelopmental disorders and variable other features. Here, we report three unrelated individuals with de novo loss-of-func...
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, Catarina T.; Conceição, Inês C.; Oliveira, Bárbara; Coelho, Joana; Sousa, Inês; Sequeira, Ana F.; Almeida, Joana; Café, Cátia; Duque, FredericoBackground: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. ...