Mapping a shared genetic basis for neurodevelopmental disorders

Genome Med. 2017 Dec 14;9(1):109. doi: 10.1186/s13073-017-0503-4.

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.

Publication types

  • Comment

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • DNA Copy Number Variations*
  • Guanine Nucleotide Exchange Factors
  • Humans
  • Neurodevelopmental Disorders*
  • Tumor Suppressor Proteins / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • KANK1 protein, human
  • Tumor Suppressor Proteins