estd225 (Magnusson et al. 2016)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Xu Chen
- Description:
- The study is based on CNV scorings from genome wide genotyping (700K SNPs) of blood DNA available on both members of 38 MZ twin pairs. They were identified while undertaking genotyping of almost 10 000 twins in the Swedish TwinGene project. Both members of the 38 MZ-pair were accidentally included due to initial misclassification of zygosity (based on similarity questions). We aimed to investigate occurrence of potential CNV differences between the members of the 38 pairs and thus to test the robustness of the assumption of 100% shared genetic variation in MZ in the classical twin model from the CNV perspective. We find that systemic CNV differences in MZ twins are rare with only one single finding validating with independent methodology. Interestingly, this CNV is a deletion located in the NRXN1 gene encoding Neurexin1 and there covers a small exon. NRXN1 is among the top genes for CNV involvement in development of schizophrenia, cognitive performance, autism and Tourette’s syndrome. Despite this there was no evidence of any mental/cognitive consequences of the deletion in the affected pair. See Variant Summary counts for estd225 in dbVar Variant Summary.
- Publication(s):
- Magnusson et al. 2016