PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.

ABSTRACT:

Background

Zellweger syndrome (ZS) is commonly manifested as facial deformities, hypotonia, and liver dysfunction. However, ZS caused by PEX26 gene mutation shows a broad and dispersed clinical pattern. In this study, the PEX26 gene in ZS was analyzed to enrich its clinical characteristics. Meanwhile, phenotypic and genotypic characteristics of Zellweger spectrum disorder (ZSD) induced by PEX26 mutation were evaluated.

Methods

The clinical data of newborn with ZS in our hospital were analyzed retrospectively. We performed WES and found that the infant carried the PEX26 gene variant. We searched the biomedical literature databases (PubMed, Web of Science, and EMBASE) to compare clinical features and genotypes.

Results

The neonate developed f

SUBMITTER: He Y 

PROVIDER: S-EPMC8349955 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature