Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

Daria Salyakina, Holly N. Cukier, Joycelyn M. Lee, Stephanie Sacharow, Laura D. Nations, Deqiong Ma, James M. Jaworski, Ioanna Konidari, Patrice L. Whitehead, Harry H. Wright, Ruth K. Abramson, Scott M. Williams, Ramkumar Menon, Jonathan L. Haines, John R. Gilbert, Michael L. Cuccaro, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

51 Scopus citations

Abstract

Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions than by single nucleotide polymorphisms (SNPs). In the multifaceted etiology of autism spectrum disorders (ASDs), CNVs appear to contribute significantly to our understanding of the pathogenesis of this complex disease. A unique resource of 42 extended ASD families was genotyped for over 1 million SNPs to detect CNVs that may contribute to ASD susceptibility. Each family has at least one avuncular or cousin pair with ASD. Families were then evaluated for co-segregation of CNVs in ASD patients. We identified a total of five deletions and seven duplications in eleven families that co-segregated with ASD. Two of the CNVs overlap with regions on 7p21.3 and 15q24.1 that have been previously reported in ASD individuals and two additional CNVs on 3p26.3 and 12q24.32 occur near regions associated with schizophrenia. These findings provide further evidence for the involvement of ICA1 and NXPH1 on 7p21.3 in ASD susceptibility and highlight novel ASD candidates, including CHL1, FGFBP3 and POUF41. These studies highlight the power of using extended families for gene discovery in traits with a complex etiology.

Original languageEnglish (US)
Article numbere26049
JournalPloS one
Volume6
Issue number10
DOIs
StatePublished - Oct 7 2011

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

Fingerprint Dive into the research topics of 'Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk'. Together they form a unique fingerprint.

  • Cite this

    Salyakina, D., Cukier, H. N., Lee, J. M., Sacharow, S., Nations, L. D., Ma, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Wright, H. H., Abramson, R. K., Williams, S. M., Menon, R., Haines, J. L., Gilbert, J. R., Cuccaro, M. L., & Pericak-Vance, M. A. (2011). Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PloS one, 6(10), [e26049]. https://doi.org/10.1371/journal.pone.0026049