DeSanto-Shinawi Syndrome: First Case in South America.

Pathogenic variants in are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections. His immune workup revealed hypogammaglobulinemia, and clinical exome sequencing revealed a novel intronic variant in (c.1437+1G>A). To the best of our knowledge, this is the first case of DESSH in South America, underlining the accumulating evidence of the significant role of haploinsufficiency in neurobehavioral phenotypes. Although this report suggested the potential involvement of in immune regulation, additional reports are required to confirm our observations.