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

41 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Autistic Disorder
Nucleotides
Polymorphism
Genes
single nucleotide polymorphism
Single Nucleotide Polymorphism
etiology
extended families
Autism Spectrum Disorder
autism
Genetic Association Studies
Human Genome
Schizophrenia
pathogenesis
nucleotides
genome

ASJC Scopus subject areas

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

Cite this

Salyakina, D., Cukier, H. N., Lee, J. M., Sacharow, S., Nations, L. D., Ma, D., ... 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

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. / Salyakina, Daria; Cukier, Holly N.; Lee, Joycelyn M.; Sacharow, Stephanie; Nations, Laura D.; Ma, Deqiong; Jaworski, James M.; Konidari, Ioanna; Whitehead, Patrice L.; Wright, Harry H.; Abramson, Ruth K.; Williams, Scott M.; Menon, Ramkumar; Haines, Jonathan L.; Gilbert, John R.; Cuccaro, Michael L.; Pericak-Vance, Margaret A.

In: PLoS One, Vol. 6, No. 10, e26049, 07.10.2011.

Research output: Contribution to journalArticle

Salyakina, D, Cukier, HN, Lee, JM, Sacharow, S, Nations, LD, Ma, D, Jaworski, JM, Konidari, I, Whitehead, PL, Wright, HH, Abramson, RK, Williams, SM, Menon, R, Haines, JL, Gilbert, JR, Cuccaro, ML & Pericak-Vance, MA 2011, 'Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk', PLoS One, vol. 6, no. 10, e26049. https://doi.org/10.1371/journal.pone.0026049
Salyakina, Daria ; Cukier, Holly N. ; Lee, Joycelyn M. ; Sacharow, Stephanie ; Nations, Laura D. ; Ma, Deqiong ; Jaworski, James M. ; Konidari, Ioanna ; Whitehead, Patrice L. ; Wright, Harry H. ; Abramson, Ruth K. ; Williams, Scott M. ; Menon, Ramkumar ; Haines, Jonathan L. ; Gilbert, John R. ; Cuccaro, Michael L. ; Pericak-Vance, Margaret A. / Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. In: PLoS One. 2011 ; Vol. 6, No. 10.
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