Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Abstract

Received: 28 Nov, 2018 Accepted: 27 Aug, 2019 Abstract Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family.