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

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

Research output: Contribution to journalArticle

Abstract

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
Volume11
Issue number3
DOIs
StatePublished - Mar 1 2016

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Self-Injurious Behavior
Intellectual Disability
Library Catalogs
Cyclic AMP Receptor Protein
Monosomy
Serotonin Receptors
Trisomy
Autistic Disorder
Transcription Factors
Genes
monosomics
trisomics
serotonin
etiology
transcription factors
receptors
genes

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., Dziedzic, A., Frank-Crawford, M. A., ... Pevsner, J. (2016). Copy number variants associated with 14 cases of self-injurious behavior. PLoS One, 11(3), [e0149646]. DOI: 10.1371/journal.pone.0149646

Copy number variants associated with 14 cases of self-injurious behavior. / Shirley, Matthew D.; Frelin, Laurence; López, José Soria; Jedlicka, Anne; Dziedzic, Amanda; Frank-Crawford, Michelle A.; Silverman, Wayne; Hagopian, Louis; Pevsner, Jonathan.

In: PLoS One, Vol. 11, No. 3, e0149646, 01.03.2016.

Research output: Contribution to journalArticle

Shirley, MD, Frelin, L, López, JS, Jedlicka, A, Dziedzic, A, Frank-Crawford, MA, Silverman, W, Hagopian, L & Pevsner, J 2016, 'Copy number variants associated with 14 cases of self-injurious behavior' PLoS One, vol 11, no. 3, e0149646. DOI: 10.1371/journal.pone.0149646
Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA et al. Copy number variants associated with 14 cases of self-injurious behavior. PLoS One. 2016 Mar 1;11(3). e0149646. Available from, DOI: 10.1371/journal.pone.0149646

Shirley, Matthew D.; Frelin, Laurence; López, José Soria; Jedlicka, Anne; Dziedzic, Amanda; Frank-Crawford, Michelle A.; Silverman, Wayne; Hagopian, Louis; Pevsner, Jonathan / Copy number variants associated with 14 cases of self-injurious behavior.

In: PLoS One, Vol. 11, No. 3, e0149646, 01.03.2016.

Research output: Contribution to journalArticle

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