Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype.

Desanto-Shinawi syndrome (DESSHS) is a rare autosomal dominant disorder caused by a loss of function variant or deletion of the WAC gene. DESSHS is characterized by dysmorphic features and global developmental delay. In this report, we discuss three boys with DESSHS. These three patients exhibited the characteristic facial dysmorphism, intellectual disability, and behavioral problems associated with DESSHS. In addition, the patients presented with features not previously associated with DESSHS, including choanal atresia, flat feet, hypospadias, caudothalamic groove, and periventricular leukomalacia. Two of our patients had novel sequence variants (de-novo) in the WAC gene, specifically c.921del (p. E307Dfs*24) and c.479delC (p. Pro160fs*32). The third variant was a 9,389 kbp deletion on chromosome 10p12.31p11.22, resulting in the deletion of 74 genes, including the WAC gene. This report highlights manifestations not previously reported with DESSHS and may expand the understanding of this rare disorder. Furthermore, two new variants were detected in our patients.