Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
| Autor: | Wolfe, Kate, Strydom, André, Morrogh, Deborah, Carter, Jennifer, Cutajar, Peter, Eyeoyibo, Mo, Hassiotis, Angela, McCarthy, Jane, Mukherjee, Raja, Paschos, Dimitrios, Perumal, Nagarajan, Read, Stephen, Shankar, Rohit, Sharif, Saif, Thirulokachandran, Suchithra, Thygesen, Johan H, Patch, Christine, Ogilvie, Caroline, Flinter, Frances, McQuillin, Andrew, Bass, Nick |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Chromosome Aberrations Male Chromosomes Human Pair 15 Comparative Genomic Hybridization Adolescent DNA Copy Number Variations Autism Spectrum Disorder Cell Adhesion Molecules Neuronal Calcium-Binding Proteins Nerve Tissue Proteins Middle Aged Microarray Analysis Receptors N-Methyl-D-Aspartate Article White People England Intellectual Disability mental disorders Schizophrenia Humans Female Neural Cell Adhesion Molecules Chromosomes Human Pair 16 Aged |
| Zdroj: | Wolfe, K, Strydom, A, Morrogh, D, Carter, J, Cutajar, P, Eyeoyibo, M, Hassiotis, A, McCarthy, J, Mukherjee, R, Paschos, D, Perumal, N, Read, S, Shankar, R, Sharif, S, Thirulokachandran, S, Thygesen, J H, Patch, C, Ogilvie, C, Flinter, F, McQuillin, A & Bass, N 2016, ' Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders ', European journal of human genetics : EJHG . https://doi.org/10.1038/ejhg.2016.107 European Journal of Human Genetics |
| DOI: | 10.1038/ejhg.2016.107 |
| Popis: | Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England. CNV pathogenicity was assessed using standard clinical diagnostic methods and participants underwent comprehensive medical and psychiatric phenotyping. We found an 11% yield of likely pathogenic CNVs (22/202). CNVs at recurrent loci, including the 15q11-q13 and 16p11.2-p13.11 regions were most frequently observed. We observed an increased frequency of 16p11.2 duplications compared with those reported in single-disorder cohorts. CNVs were also identified in genes known to effect neurodevelopment, namely NRXN1 and GRIN2B. Furthermore deletions at 2q13, 12q21.2-21.31 and 19q13.32, and duplications at 4p16.3, 13q32.3-33.3 and Xq24-25 were observed. Routine CMA in ID psychiatry could uncover ~11% new genetic diagnoses with potential implications for patient management. We advocate greater consideration of CMA in the assessment of adults with idiopathic ID presenting to psychiatry services.European Journal of Human Genetics advance online publication, 21 September 2016; doi:10.1038/ejhg.2016.107. |
| Databáze: | OpenAIRE |
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