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Isolated sulfite oxidase deficiency: a founder mutation.

Aizeddin A Mhanni1, Cheryl R Greenberg1,2, Elizabeth L Spriggs1,2

  • 1Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba R3A 1S1, Canada.

Cold Spring Harbor Molecular Case Studies
|December 18, 2020
PubMed
Summary
This summary is machine-generated.

Isolated sulfite oxidase deficiency, a rare metabolic disorder, causes severe neurological issues. A specific gene mutation (1347-1350delTTGT in SUOX) was identified in two patients, leading to this deficiency.

Keywords:
increased urinary sulfiteincreased urinary thiosulfate

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of sulfur metabolism.
  • Clinical manifestations include severe neurological dysfunction, ectopia lentis, and elevated urinary sulfite, thiosulfate, and S-sulfocysteine.
  • Diagnosis can be challenging due to variability in screening tests.

Purpose of the Study:

  • To present clinical, biochemical, and molecular data on two unrelated patients with isolated sulfite oxidase deficiency.
  • To identify the genetic basis of the disorder in these patients.
  • To highlight the impact of a specific mutation on enzyme function and clinical phenotype.

Main Methods:

  • Clinical case presentation and biochemical analysis of urinary metabolites.
  • Molecular genetic analysis of the sulfite oxidase gene (SUOX).
  • Correlation of genotype with clinical phenotype and enzyme deficiency.

Main Results:

  • Two patients from an Indigenous genetic isolate in Manitoba presented with neonatal seizures and progressive neurodevelopmental delay.
  • Elevated urinary sulfite, thiosulfate, and S-sulfocysteine confirmed sulfite oxidase deficiency.
  • Both patients harbored a homozygous 4-bp deletion (1347-1350delTTGT) in the SUOX gene, leading to a truncated sulfite oxidase protein.

Conclusions:

  • The identified SUOX gene mutation (1347-1350delTTGT) causes isolated sulfite oxidase deficiency with a severe early-onset phenotype.
  • This mutation affects a critical domain for enzyme dimerization, resulting in complete loss of function.
  • Genetic analysis is crucial for accurate diagnosis and understanding the molecular basis of this rare metabolic disorder.