Transcriptome Profiling of patients with 16p11.2 rearrangements

ABSTRACT: The 600kb BP4-BP5 16p11.2 CNV (copy number variant) is associated with neuroanatomical, neurocognitive and metabolic disorders. These recurrent rearrangements are associated with reciprocal phenotypes such as obesity and underweight, macro- and microcephaly, as well as autism spectrum disorder (ASD) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal CNVs in 16p11.2. The genome-wide transcript perturbations correlated with clinical endophenotypes of the CNV and were enriched for genes associated with ASD. We uncovered a significant correlation between copy number changes and expression levels of genes mutated in ciliopathies.

ORGANISM(S): Homo sapiens

PROVIDER: GSE57802 | GEO | 2015/05/10

SECONDARY ACCESSION(S): PRJNA248126

REPOSITORIES: GEO