ANKRD17 Gene Heterozygous Variant Leads to Chopra-Amiel-Gordon Syndrome: A Case Study and Literature Review

Chopra-Amiel-Gordon syndrome (CAGS, MIM: 619504), also known as ANKRD17 gene-related neurodevelopmental syndrome, is a rare autosomal dominant inherited disease. It is caused by a heterozygous loss-of-function pathogenic variant in the ANKRD17 gene, encoding an ankyrin repeat domain-containing protein. Primary clinical features of this disease include growth and developmental delays with or without intellectual disabilities, manifesting as language development and behavioral disorders. We herein report a female child with CAGS, representing the second reported case in China. Research on the ANKRD17 gene remains limited to date, with merely 37 cases of CAGS documented in the literature. This article elaborates on the patient’s clinical and genetic characteristics, diagnosis, treatment, and follow-up course. It aims to enhance clinicians’ awareness of this rare disease, facilitate early intervention, and ultimately improve prognosis.