The genetic variability and commonality of neurodevelopmental disease

Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler

Research output: Contribution to journalArticle

75 Scopus citations

Abstract

Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent copy number variation (CNV), in particular, has emphasized the importance of either de novo or essentially private mutations creating imbalances for multiple genes. CNVs have foreshadowed a model where the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes.

Original languageEnglish (US)
Pages (from-to)118-129
Number of pages12
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume160 C
Issue number2
DOIs
StatePublished - May 15 2012

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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