Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility

Holly N. Cukier, David A. Skaar, Melissa Y. Rayner-Evans, Ioanna Konidari, Patrice L. Whitehead, James M. Jaworski, Michael L. Cuccaro, Margaret A. Pericak-Vance, John R. Gilbert

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (∼108-110Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation.

Original languageEnglish (US)
Pages (from-to)258-266
Number of pages9
JournalAutism Research
Issue number5
StatePublished - Oct 2009


  • Fluorescent in situ hybridization (FISH)
  • Genome-wide association study (GWAS)
  • Molecular genetics
  • Paracentric inversion

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Genetics(clinical)


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