DeSanto-Shinawi syndrome is caused by a mutation in the gene WAC. If you think about our DNA as the letters of the alphabet, the mutation is typically a change of a single letter. This change causes a misspelling of the “words” made up by the alphabet. In this case, the information encoded by this gene is disrupted and non-readable.
In most of the cases, the WAC mutation that is found in the affected child is neither present in the father, nor the mother. This is considered a “de novo” mutation. In that case, the chances for future children to be affected with DeSanto-Shinawi syndrome are considered to be very low, but appear to exceed that of the general population.
Although such occurrences have not been reported to date, each child of an affected individual has a 50% chance of being affected dependent on whether or not he or she inherits the mutated or normal copy of the gene from the affected parent.
Prenatal genetic counselling can be offered in families where the diagnosis has been molecularly confirmed.