S Bian, Y Chen, S Liao, B Hao

Abstract

Zellweger syndrome (ZS) is the most severe phenotype in peroxisomal biogenesis disorders (PBDs). 14 Peroxin (PEX) genes have been identified to attribute PBDs, and about 70% of the ZS patients harbor gene mutations in PEX1. Recently gene mutation screening combined with clinical manifestations such as distinct facial features and congenital malformations is considered a suitable test for ZS patients. Here, a Chinese newborn patient with clinical features of ZS confirmed by molecular findings was reported. A novel pathogenic variation of the PEX1 gene was identified by exome sequencing. The patient is a homozygote of c.1671_1672delAG variation in the PEX1 gene and was inherited from her heterogenous parents, respectively. This variation leads to early termination of translation and produces a non-functional truncated protein. We report a novel pathogenic variation in the PEX1 gene, providing valuable information for genetic counseling and reproductive options.