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New finding to facilitate diagnostic tools for congenital diseases

A discovery by researchers at the Mount Sinai Icahn School of Medicine and collaborators has revealed how genetic mutations called epivariations can cause some neurodevelopmental disorders and congenital diseases.

The team believes that the finding can help in developing advanced diagnostic tools for these diseases, including autism and congenital heart disease, which are missed with standard genetic screening.

Epivariations are changes in DNA that cause an alteration in gene function but do not affect the DNA sequence. The particular variation found by the researchers was due to excess DNA methylation.