PT  - JOURNAL ARTICLE
AU  - Janani Iyer
AU  - Santhosh Girirajan
TI  - Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders
AID  - 10.1101/011510
DP  - 2014 Jan 01
TA  - bioRxiv
PG  - 011510
4099  - http://biorxiv.org/content/early/2014/11/17/011510.short
4100  - http://biorxiv.org/content/early/2014/11/17/011510.full
AB  - 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.