Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Original research article by R. Asadollahi et al. (2013) 

Read the abstract here.

This study describes three people with changes in the MED13L gene. Two children had deletions, and the third had three copies (triplication) of the MED13L gene plus one other gene. None of the three changes in the MED13L were inherited from either parent. The three children described in this study had some degree of developmental delay and intellectual differences. One child had moderate intellectual disability, and another had mild learning disabilities. The children also had different types of heart defects and low muscle tone. The authors noted that there is clinical overlap between the features caused by changes in the MED13L gene and 22q11.2 deletion syndrome; both of these conditions are caused by similar biological and molecular mechanisms.