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.
authors.affiliation: Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Shirley
authors.affiliation: Department of Neurology, Hugo W. Moser Research Institute at Kennedy Krieger, Baltimore, Maryland, United States of America.
authors.forename: Laurence
authors.initials: L
authors.lastname: Frelin
authors.affiliation: Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
authors.forename: José Soria
authors.initials: JS
authors.lastname: López
authors.affiliation: Genomic Analysis and Sequencing Core, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America.
authors.forename: Anne
authors.initials: A
authors.lastname: Jedlicka
authors.affiliation: Genomic Analysis and Sequencing Core, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America.
authors.forename: Amanda
authors.initials: A
authors.lastname: Dziedzic
authors.affiliation: Deptartment of Behavioral Psychology, Kennedy Krieger Institute, Baltimore, Maryland, United States of America.
authors.forename: Michelle A
authors.initials: MA
authors.lastname: Frank-Crawford
authors.affiliation: Deptartment of Behavioral Psychology, Kennedy Krieger Institute, Baltimore, Maryland, United States of America.|Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
authors.forename: Wayne
authors.initials: W
authors.lastname: Silverman
authors.affiliation: Deptartment of Behavioral Psychology, Kennedy Krieger Institute, Baltimore, Maryland, United States of America.|Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
authors.forename: Louis
authors.initials: L
authors.lastname: Hagopian
authors.affiliation: Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.|Department of Neurology, Hugo W. Moser Research Institute at Kennedy Krieger, Baltimore, Maryland, United States of America.|Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Pevsner
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009006:Monosomy / Q000235:genetics; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D016728:Self-Injurious Behavior / Q000235:genetics*; D014314:Trisomy / Q000235:genetics; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D044405:Receptor, Serotonin, 5-HT2C; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2