Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism.

ABSTRACT: Many genetic studies in autism have been performed, resulting in the identification of multiple linkage regions and cytogenetic aberrations, but little unequivocal evidence for the involvement of specific genes exists. By identifying novel symptoms in these patients, enhanced phenotyping of autistic individuals not only improves understanding and diagnosis but also helps to define biologically more homogeneous groups of patients, improving the potential to detect causative genes. Supported by recent copy number variation findings in autism, we hypothesized that for some susceptibility loci, autism resembles a contiguous gene syndrome, caused by aberrations within multiple (contiguous) genes, which jointly increases autism susceptibility. This would result in various different clinical mani

SUBMITTER: Buizer-Voskamp JE 

PROVIDER: S-EPMC2987310 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature