Jalili Syndrome: A new pathogenic mutation of CNNM4 gene

Abstract

Jalili syndrome (JS) is a rare autosomal recessive with two cardinal symptoms including cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). This disease caused by different mutations on the metal transporter gene CNNM4 located on 2q11. This report described an Iranian family with clinical features of JS and phenotypic variability in terms of ocular and dental findings. The parents were healthy and consanguineous, but three out of their four offspring shared an oculo-dental phenotype. Dental and ocular examination shows CRD and AI. Enamel destruction and Ocular symptoms began in their childhood. Whole exome sequencing (WES) in the proband identified a novel homozygous mutation (c.G1423A:p.V475M) in the CNNM4 gene. These findings suggested that the p.V475M mutation in homozygous state induces a complete phenotype with both CRD and AI.