Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior

PLoS One. 2016 Mar 2;11(3):e0149646. doi: 10.1371/journal.pone.0149646. eCollection 2016.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Autistic Disorder / genetics
  • Child
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 21 / genetics
  • DNA Copy Number Variations / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Homeodomain Proteins / genetics
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Monosomy / genetics
  • Receptor, Serotonin, 5-HT2C / genetics
  • Repressor Proteins / genetics
  • Self-Injurious Behavior / genetics*
  • Trisomy / genetics
  • Zinc Finger E-box Binding Homeobox 2


  • Homeodomain Proteins
  • Receptor, Serotonin, 5-HT2C
  • Repressor Proteins
  • ZEB2 protein, human
  • Zinc Finger E-box Binding Homeobox 2

Supplementary concepts

  • Chromosome 14 trisomy
  • Chromosome 21 monosomy