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
Highlights
Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders
Many rare Copy number varian (CNV) and Single-nucleotide variant (SNV) have been implicated in different neurodevelopmental disorders, but examination of multiple disease cohorts in a single study allows for a more robust identification of the shared genetic basis of these disorders
The same needles in different haystacks Given the large contribution of CNVs towards neurodevelopmental disorders, a study of rare CNVs in multiple disease cohorts would be a natural starting place to identify genes shared among the disorders
Summary
Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. Many rare CNVs and SNVs have been implicated in different neurodevelopmental disorders, but examination of multiple disease cohorts in a single study allows for a more robust identification of the shared genetic basis of these disorders.
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