Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders

Janani Iyer, Santhosh Girirajan

Research output: Contribution to journalArticle

13 Scopus citations


Rare copy-number variants (CNVs) are a significant cause of neurodevelopmental disorders. The sequence architecture of the human genome predisposes certain individuals to deletions and duplications within specific genomic regions. While assessment of individuals with different breakpoints has identified causal genes for certain rare CNVs, deriving gene- phenotype correlations for rare CNVs with similar breakpoints has been challenging. We present a comprehensive review of the literature related to genetic architecture that is predisposed to recurrent rearrangements, and functional evaluation of deletions, duplications and candidate genes within rare CNV intervals using mouse, zebrafish and fruit fly models. It is clear that phenotypic assessment and complete genetic evaluation of large cohorts of individuals carrying specific CNVs and functional evaluation using multiple animal models are necessary to understand the molecular genetic basis of neurodevelopmental disorders.

Original languageEnglish (US)
Article numberelv018
Pages (from-to)315-328
Number of pages14
JournalBriefings in functional genomics
Issue number5
StatePublished - Sep 1 2015


All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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