Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE
    • Publication Information:
      Original Publication: Amsterdam, Elsevier.
    • Subject Terms:
      Infant, Newborn, Diseases* ; Sulfite Oxidase*/deficiency ; Sulfite Oxidase*/genetics ; Sulfite Oxidase*/metabolism; Amino Acid Metabolism, Inborn Errors ; Female ; Humans ; Infant, Newborn ; Mutation ; Oxidoreductases Acting on Sulfur Group Donors/genetics ; Pedigree ; Seizures ; Exome Sequencing
    • Abstract:
      Background: Isolated sulfite oxidase deficiency (ISOD) is a rare type of life-threatening neurometabolic disorders characterized by neonatal intractable seizures and severe developmental delay with an autosomal recessive mode of inheritance. Germline mutation in SUOX gene causes ISOD. Till date, only 32 mutations of SUOX gene have been identified and reported to be associated with ISOD.
      Methods: Here, we investigated a 5-days old Chinese female child, presented with intermittent tremor or seizures of limbs, neonatal encephalopathy, subarachnoid cyst and haemorrhage, dysplasia of corpus callosum, neonatal convulsion, hyperlactatemia, severe metabolic acidosis, hyperglycemia, and hyperkalemia.
      Results: Whole exome sequencing identified a novel homozygous transition (c.1227G > A) in exon 6 of the SUOX gene in the proband. This novel homozygous variant leads to the formation of a truncated sulfite oxidase (p.Trp409*) of 408 amino acids. This variant causes partial loss of the dimerization domain of sulfite oxidase. Hence, it is a loss-of-function variant. Proband's father and mother is carrying this novel variant in a heterozygous state. This variant was not found in 200 ethnically matched normal healthy control individuals.
      Conclusions: Our study not only expanded the mutational spectrum of SUOX gene associated with ISOD, but also strongly suggested the significance of whole exome sequencing for identifying candidate genes and novel disease-causing variants.
      (Copyright © 2022 Elsevier B.V. All rights reserved.)
    • Contributed Indexing:
      Keywords: Homozygous; ISOD syndrome; Loss-of-function mutation; Novel variant; SUOX gene
    • Accession Number:
      EC 1.8.- (Oxidoreductases Acting on Sulfur Group Donors)
      EC 1.8.3.1 (SUOX protein, human)
      EC 1.8.3.1 (Sulfite Oxidase)
    • Subject Terms:
      Sulfite oxidase deficiency
    • Publication Date:
      Date Created: 20220609 Date Completed: 20220621 Latest Revision: 20221207
    • Publication Date:
      20221213
    • Accession Number:
      10.1016/j.cca.2022.06.005
    • Accession Number:
      35679912