[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].

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  • Author(s): Yang Z;Yang Z; Quan Y; Wang Y; Chen G; Ma Y; Xu K
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Aug 10; Vol. 40 (8), pp. 986-989.
  • Publication Type:
    Case Reports; English Abstract; Journal Article
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Amino Acid Metabolism, Inborn Errors*/genetics; Child ; Female ; Humans ; Genetic Counseling ; Genomics ; High-Throughput Nucleotide Sequencing ; Mutation
    • Abstract:
      Objective: To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD).
      Methods: The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).
      Results: The child was found to harbor compound heterozygous variants of the SUOX gene, namely c.1200C>G (p.Tyr400*) and c.1406_1421delCCTGGCAGGTGGCTAA (p.Thr469Serfs*20), which were inherited from her mother and father, respectively. The c.1200C>G was a known pathogenic variant, while the c.1406_1421delCCTGGCAGGTGGCTAA was unreported previously and predicted to be a pathogenic variant (PVS1+PM2_Supporting +PM3) based on the guidelines from the American College of Medical Genetics and Genomics.
      Conclusion: The compound c.1200C>G and c.1406_1421delCCTGGCAGGTGGCTAA variants of the SUOX gene probably underlay the pathogenesis of ISOD in this child. Above finding has expanded the spectrum of SUOX gene variants and provided molecular evidence for the clinical diagnosis and genetic counseling for this pedigree.
    • Subject Terms:
      Sulfite oxidase deficiency
    • Publication Date:
      Date Created: 20230802 Date Completed: 20230804 Latest Revision: 20230804
    • Publication Date:
      20230805
    • Accession Number:
      10.3760/cma.j.cn511374-20220303-00183
    • Accession Number:
      37532499