We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
- Authors
Murdoch, John D.; Gupta, Abha R.; Sanders, Stephan J.; Walker, Michael F.; Keaney, John; Fernandez, Thomas V.; Murtha, Michael T.; Anyanwu, Samuel; Ober, Gordon T.; Raubeson, Melanie J.; DiLullo, Nicholas M.; Villa, Natalie; Waqar, Zainabdul; Sullivan, Catherine; Gonzalez, Luis; Willsey, A. Jeremy; Choe, So-Yeon; Neale, Benjamin M.; Daly, Mark J.; State, Matthew W.
- Abstract
Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses, and both common and rare single nucleotide association studies. However, data specifically with regard to the contribution of heterozygous single nucleotide variants (SNVs) have been inconsistent. In an effort to clarify the role of rare point mutations in CNTNAP2 and related gene families, we have conducted targeted next-generation sequencing and evaluated existing sequence data in cohorts totaling 2704 cases and 2747 controls. We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk.
- Subjects
PROTEIN analysis; PROTEIN genetics; GENETICS of autism; CYTOGENETICS; SINGLE nucleotide polymorphisms
- Publication
PLoS Genetics, 2015, Vol 11, Issue 1, p1
- ISSN
1553-7390
- Publication type
Article
- DOI
10.1371/journal.pgen.1004852