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Mapping a shared genetic basis for neurodevelopmental disorders.

Matthew JensenSanthosh D Girirajan
Published in: Genome medicine (2017)
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.
Keyphrases
  • copy number
  • genome wide
  • mitochondrial dna
  • gene expression
  • congenital heart disease
  • replacement therapy
  • genome wide association study