[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review]

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P Yang1, C Z Zeng2, X W Tao3

  • 1School of Medicine, Department of Medicine, Wuhan University of Science and Technology, Wuhan 430000, China.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|December 28, 2023
PubMed

Insights

Zellweger spectrum disorder (ZSD) caused by PEX6 gene variations presents with severe neonatal symptoms. Early genetic testing for PEX6 mutations is vital for diagnosing this rare peroxisomal disorder.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Zellweger spectrum disorder (ZSD) is a group of rare inherited peroxisomal biogenesis disorders.
  • PEX6 gene mutations are a known cause of ZSD, impacting peroxisome function.

Approach:

  • This case series retrospectively analyzed clinical and genetic data of two neonates with PEX6-related ZSD.
  • A comprehensive literature review identified 26 additional PEX6-ZSD cases.

Key Points:

  • Neonates presented with dyspnea, hypotonia, feeding difficulties, enlarged fontanelle, and high palatine arch.
  • Biochemical tests showed elevated bile acids; cranial ultrasounds revealed ventricular enlargement and subependymal cysts.
  • Common clinical features across PEX6-ZSD cases include hearing loss, developmental delay, vision impairment, and brain malformations.

Conclusions:

  • PEX6 gene variations are a significant cause of Zellweger spectrum disorder.
  • Clinical suspicion should arise with neonatal hypotonia, feeding difficulties, distinctive facies, brain malformations, or failed hearing screening.
  • Genetic analysis of the PEX6 gene is essential for accurate diagnosis and understanding of ZSD.

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