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

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

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.

Suggested Citation

  • Matthew D Shirley & Laurence Frelin & José Soria López & Anne Jedlicka & Amanda Dziedzic & Michelle A Frank-Crawford & Wayne Silverman & Louis Hagopian & Jonathan Pevsner, 2016. "Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior," PLOS ONE, Public Library of Science, vol. 11(3), pages 1-16, March.
    • Handle: RePEc:plo:pone00:0149646
    DOI: 10.1371/journal.pone.0149646
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    1. Christian Gilissen & Jayne Y. Hehir-Kwa & Djie Tjwan Thung & Maartje van de Vorst & Bregje W. M. van Bon & Marjolein H. Willemsen & Michael Kwint & Irene M. Janssen & Alexander Hoischen & Annette Sche, 2014. "Genome sequencing identifies major causes of severe intellectual disability," Nature, Nature, vol. 511(7509), pages 344-347, July.
    2. Eric L Stevens & Greg Heckenberg & Elisha D O Roberson & Joseph D Baugher & Thomas J Downey & Jonathan Pevsner, 2011. "Inference of Relationships in Population Data Using Identity-by-Descent and Identity-by-State," PLOS Genetics, Public Library of Science, vol. 7(9), pages 1-15, September.
    3. Brian J. O’Roak & Laura Vives & Santhosh Girirajan & Emre Karakoc & Niklas Krumm & Bradley P. Coe & Roie Levy & Arthur Ko & Choli Lee & Joshua D. Smith & Emily H. Turner & Ian B. Stanaway & Benjamin V, 2012. "Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations," Nature, Nature, vol. 485(7397), pages 246-250, May.
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