A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report

Abstract

Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (ACOGS; OMIM #618929) is a rare genetic disorder characterized by global developmental delay, agenesis or hypoplasia of corpus callosum, craniofacial dysmorphism, ocular, cardiac, and genital anomalies. ACOGS is caused by variations in the CDH2 gene. Our patient had a novel finding besides the classical findings of ACOGS. To the best of our knowledge, only 14 patients with ACOGS have been reported. Here, we reported the fifteenth patient with ACOGS, having a novel de novo nonsense variant in the CDH2 gene, and the first patient from Turkey with a novel finding. Our patient was the first female to have a renal anomaly since only genital malformations were reported in male patients (cryptorchidism, micropenis) so far.