Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

ABSTRACT: Rare copy number variations (CNVs) are a recognized cause of common human disease. Predicting the genetic element(s) within a small CNV whose copy number loss or gain underlies a specific phenotype might be achieved reasonably rapidly for single patients. Identifying the biological processes that are commonly disrupted within a large patient cohort which possess larger CNVs, however, requires a more objective approach that exploits genomic resources. In this study, we first identified 98 large, rare CNVs within patients exhibiting multiple congenital anomalies. All patients presented with global developmental delay (DD), while other secondary symptoms such as cardiac defects, craniofacial features and seizures were varyingly presented. By applying a robust statistical procedure that matche

SUBMITTER: Shaikh TH 

PROVIDER: S-EPMC3033180 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature