Unknown,Transcriptomics,Genomics,Proteomics

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Targetted Microarray Testing for Intellectual Disability Provides Diagnoses and Identifies Novel Candidate Genes


ABSTRACT: We designed a microarray to test at exonic resolution for genomic imbalance for genes representative of all known chromosomal microdeletion/microduplication syndromes, all known causative genes for ID, all known genes encoding glutamate receptors and their known encoding proteins and all known genes encoding proteins with epigenetic regulatory function. We found 36 de novo copy number variants affecting 35 children in this study. 167 trios, each comprising an affected child and both its normal parents were analyzed by conducting two comparative hybridizations; child vs. mother and child vs. father, and only selecting a CNV if it appeared in both hybridizations, i.e., was de novo. De novo CNVs were independantly validated using quantitative PCR.

ORGANISM(S): Homo sapiens

SUBMITTER: Farah Zahir 

PROVIDER: E-GEOD-39533 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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