PubMed ID | Description |
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21792059 | Sahoo et al. 2011- evaluation of individuals with copy number variants, identified by microarray testing, overlapping known schizophrenia susceptibility loci. Found five instances of partial DLG2 deletions in individuals with varying indications, three had delays. |
25055870 | Georgieva et al. 2014 - microarray study of 368 individuals with bipolar disorder, found a de novo partial deletion of DLG2 in a patient with bipolar disorder. |
18511947 | Xu et al. 2008 - SNP array done on patients with the only case of schizophrenia in their close family members, found a de novo 269kb partial deletion of DLG2. |
Partial deletions in DLG2 have been identified in individuals with neurodevelopmental disorders, specifically schizophrenia and other psychiatric illness as well as patients with intellectual disability, autism spectrum disorders and dysmorphic features. However the deletions have also been inherited from unaffected parents in many cases which could suggest incomplete penetrance. In addition, they are commonly observed in control populations and no whole gene deletions or other loss of function mutations have been reported. Therefore the clinical impact of these partial deletions remains uncertain.
no evidence of triplosensitivity