Genome instability plays fundamental roles in human evolution and phenotypic variation within our population. This instability leads to genomic rearrangements that are involved in a wide variety of human disorders, including congenital and neurodevelopmental disorders, and cancers. Insight into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2014, Vol 165, Issue 1, p. 52-61
Journal Article; Research Support, Non-U.S. Gov't; Autistic Disorder; Base Composition; Base Sequence; Cell Adhesion Molecules, Neuronal; DNA Copy Number Variations; DNA End-Joining Repair; Epilepsy; Gene Deletion; Genetic Variation; Genome-Wide Association Study; Genomic Instability; Humans; Nerve Tissue Proteins; Schizophrenia; Sequence Analysis, DNA