Copy number variants associated with 14 cases of self-injurious behavior

Matthew D. Shirley, Laurence Frelin, José Soria López, Anne Elizabeth Jedlicka, Amanda Dziedzic, Michelle A. Frank-Crawford, Wayne P Silverman, Louis P Hagopian, Jonathan A. Pevsner

Research output: Contribution to journalArticle


Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage. For each proband we obtained a clinical history and detailed behavioral descriptions. Genetic anomalies were observed in all probands, and likely clinical significance could be established in four cases. This included two cases having novel, de novo copy number variants and two cases having variants likely to have functional significance. These cases included segmental trisomy 14, segmental monosomy 21, and variants predicted to disrupt the function of ZEB2 (encoding a transcription factor) and HTR2C (encoding a serotonin receptor). Our results identify variants in regions previously implicated in intellectual disability and suggest candidate genes that could contribute to the etiology of SIB.

Original languageEnglish (US)
Article numbere0149646
JournalPLoS One
Issue number3
Publication statusPublished - Mar 1 2016


ASJC Scopus subject areas

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

Cite this

Shirley, M. D., Frelin, L., López, J. S., Jedlicka, A. E., Dziedzic, A., Frank-Crawford, M. A., ... Pevsner, J. A. (2016). Copy number variants associated with 14 cases of self-injurious behavior. PLoS One, 11(3), [e0149646].