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First Japanese case of Zellweger syndrome with a mutation in PEX14

Shoko Komatsuzaki1,2,3, Eishin Ogawa2, Nobuyuki Shimozawa4

  • 1Department of Medical Genetics.

Pediatrics International : Official Journal of the Japan Pediatric Society
|December 3, 2015
PubMed

Insights

Zellweger syndrome, a peroxisome biogenesis disorder, is caused by PEX gene mutations. This report details a rare PEX14 mutation case in a Japanese patient, highlighting extended survival despite severe symptoms.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Zellweger syndrome is a severe inherited peroxisome biogenesis disorder.
  • It results from mutations in PEX genes, affecting multiple organ systems.
  • PEX14 deficiency is exceptionally rare, with only two prior cases reported globally.

Observation:

  • A Japanese infant presented with hypotonia, psychomotor retardation, and rickets.
  • Diagnostic markers included increased 3,6-epoxydicarboxylic acids in urine.
  • The patient exhibited demyelination and progressive liver dysfunction.

Findings:

  • Genetic analysis identified a homozygous PEX14 mutation (c.538C>T, p.Q180X).
  • This represents the first reported case of PEX14 deficiency in Japan.
  • The patient survived until 46 months, longer than typically observed.

Implications:

  • This case expands the known spectrum of PEX14 mutations and Zellweger syndrome.
  • Understanding PEX14's role is crucial for diagnosing and managing peroxisomal disorders.
  • Further research into PEX gene mutations may reveal therapeutic targets.

Keywords:
3,6-epoxydicarboxylic acidPEX14Zellweger syndromedemyelinationperoxisome biogenesis disorders

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