15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection

15q11.2 has been associated a wide range of developmental such as neuropsychical diorders. In the study, we discovered that total anomalous pulmonary venous connection (TAPVC), A rare form of CHD, is significantly associated with 15q11.2 deletion. Using induced pluripotent stem (iPS) cells coupled with in vitro cardiomyocyte differentiation experiments, we showed that the iPS cells from the proband carrying 15q11.2 deletion could not differentiated to regular beating cardiomyocytes, whereas iPS cells from the deletion-carrying father and the normal mother did not show abnormality. Transcriptomic profiles of a TAPVC trio indicated disturbed expression of TAPVC associated genes during cell differentiation stages. (By Dr. Bo Wang, https://jmg.bmj.com/content/early/2020/05/05/jmedgenet-2019-106608 )

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