A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the gene: A case report

Abstract

Chopra-Amiel-Gordon syndrome (OMIM: 619504) is an autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, speech delay, epilepsy, dysmorphic craniofacial features, ophthalmological abnormalities, and recurrent infections. It is caused by heterozygous loss-of-function pathogenic variants in the ANKRD17 gene, which codes for an ankyrin repeat-containing protein. Currently, about 35 cases of Chopra-Amiel-Gordon syndrome are described in the medical literature. We report on a 4-year-old female patient with a novel heterozygous variant in the ANKRD17 gene.