Mapping a shared genetic basis for neurodevelopmental disorders

Abstract

Abstract Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neurodevelopmental disorders, and detected an enrichment for chromosome 9p24.3 duplication encompassing DOCK8 and KANK1 in affected individuals. Such large-scale studies will help uncover additional causative and modifier loci within common pathways, which will enable the development of therapeutic targets for the treatment of multiple disorders. See related research 10.1186/s13073-017-0494-1

Keywords

• Causative variants
• Complex disease
• Copy number variants
• Gene discovery
• Modifiers
• Neurodevelopmental disorders