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

Janani Iyer, Santhosh Girirajan

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

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
Volume14
Issue number5
DOIs
StatePublished - Sep 1 2015

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Functional assessment
Genetic Association Studies
Genes
Gene Duplication
Zebrafish
Human Genome
Diptera
Molecular Biology
Fruit
Animal Models
Fruits
Phenotype
Animals
Neurodevelopmental Disorders

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

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Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders. / Iyer, Janani; Girirajan, Santhosh.

In: Briefings in Functional Genomics, Vol. 14, No. 5, elv018, 01.09.2015, p. 315-328.

Research output: Contribution to journalArticle

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