1. Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior
- Author
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José Soria López, Louis P. Hagopian, Michelle A. Frank-Crawford, Matthew D. Shirley, Jonathan Pevsner, Laurence P. Frelin, Wayne Silverman, Anne E. Jedlicka, and Amanda Dziedzic
- Subjects
0301 basic medicine ,Proband ,Male ,Candidate gene ,Autism Spectrum Disorder ,Chromosomes, Human, Pair 21 ,Autism ,lcsh:Medicine ,Social Sciences ,Trisomy ,Database and Informatics Methods ,Chromosomal Disorders ,Mathematical and Statistical Techniques ,Monosomy ,Intellectual disability ,Medicine and Health Sciences ,Receptor, Serotonin, 5-HT2C ,Psychology ,Public and Occupational Health ,Copy-number variation ,Deletions ,lcsh:Science ,Child ,Genetics ,Multidisciplinary ,Chromosome Biology ,Genomics ,Genomic Databases ,Chromosomal Aberrations ,Neurology ,Female ,Research Article ,Adolescent ,DNA Copy Number Variations ,Disabilities ,Biology ,Research and Analysis Methods ,03 medical and health sciences ,Developmental Neuroscience ,Intellectual Disability ,medicine ,Humans ,Clinical significance ,Genetic Predisposition to Disease ,Autistic Disorder ,Zinc Finger E-box Binding Homeobox 2 ,Clinical Genetics ,Chromosomes, Human, Pair 14 ,Homeodomain Proteins ,Behavior ,lcsh:R ,Biology and Life Sciences ,Computational Biology ,Cell Biology ,medicine.disease ,Genome Analysis ,Repressor Proteins ,030104 developmental biology ,Biological Databases ,Neurodevelopmental Disorders ,Developmental Psychology ,lcsh:Q ,Chromosome 21 ,Functional Analysis ,Self-Injurious Behavior ,Neuroscience - 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.
- Published
- 2016