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

doi:10.1371/journal.pone.0149646

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

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3 Scopus citations

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 language	English (US)
Article number	e0149646
Journal	PloS one
Volume	11
Issue number	3
DOIs	https://doi.org/10.1371/journal.pone.0149646
State	Published - Mar 2016

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology
General Agricultural and Biological Sciences
General

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title = "Copy number variants associated with 14 cases of self-injurious behavior",

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.",

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AU - Frelin, Laurence

AU - López, José Soria

AU - Jedlicka, Anne

AU - Dziedzic, Amanda

AU - Frank-Crawford, Michelle A.

AU - Silverman, Wayne

AU - Hagopian, Louis

AU - Pevsner, Jonathan

N1 - Publisher Copyright: © 2016 Shirley et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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N2 - 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.

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

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