Turkey
Case Report
A Novel Mutation of the PEX16 Gene in a Patient with Slowly Progressive
Zellweger Syndrome
Author(s): Melike Ersoy, Burak Tatlı and Serdar CeylanerMelike 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 Z.. Read More»
DOI:
10.4172/2165-7920.1000854
Journal of Clinical Case Reports received 1295 citations as per Google Scholar report