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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

ABSTRACT: The Affymetrix CytoScan HD array is a high resolution SNP platform for studying copy number variations in the human genome. It is widely being used in both clinical and research settings for identifying causative variants as well as interrogating the genome for benign variants. We employed this platform to investigate the risk factor CNVs in trios diagnosed with hemiplegic cerebral palsy. We genotyped 101 unrelated probands and their both parents and compared their genotypes to those of 9,611 population controls, in order to identify rare CNVs (<0.1% frequency) of at least 10 kb in size that might contribute to CP. We uncovered de novo CNVs and Decipher Syndromes in probands. We have identified additional potentially risk factor CNVs impacting the coding sequencing of genes involved in brain functions.

ORGANISM(S): Homo sapiens

PROVIDER: GSE80813 | GEO | 2017/11/23

SECONDARY ACCESSION(S): PRJNA320060

REPOSITORIES: GEO

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