Журнал клинических случаев

A Novel Mutation of the PEX16 Gene in a Patient with Slowly Progressive Zellweger Syndrome

Abstract

Melike Ersoy, Burak Tatlı and Serdar Ceylaner

Zellweger syndrome (ZS) disorders are autosomal recessive peroxisomal biogenesis diseases mainly characterized by neonatal onset severe neurodevelopmental delay, profound hypotonia, craniofacial dysmorphism, hepatic dysfunction, polyneuropathy and loss of hearing and vision. There is a wide genetic heterogeneity that while most ZS disorders are rapidly progressive and incurable, and patients rarely survive through their first birthday, many patients have late-onset and mild ZS phenotypes. Human PEX16 is an integral membrane protein first isolated by Honsho and plays a central role in peroxisomal membrane biogenesis. According to the few existing reports, the severity and the natural course of PEX16-mutated patients are unclear, and therapy has not been discussed. Herein and based on existing research, we report and discuss the case of a young female diagnosed with slowly progressive ZS involving a novel PEX16 mutation.