A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report

Tkemaladze Tinatin; Bregvadze Kakha; Gogoberishvili Mikheil; Sopromadze-Diebold Tamari; Abzianidze Elene

doi:10.1177/2050313X231186496

A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report

SAGE Open Med Case Rep. 2023 Jul 10:11:2050313X231186496. doi: 10.1177/2050313X231186496. eCollection 2023.

Authors

Tkemaladze Tinatin¹, Bregvadze Kakha¹, Gogoberishvili Mikheil¹, Sopromadze-Diebold Tamari¹, Abzianidze Elene¹

Affiliation

¹ Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.

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.

Keywords: ANKRD17; Chopra-Amiel-Gordon syndrome; developmental delay; neurodevelopmental syndrome.

Publication types

Case Reports