Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency.
10.3760/cma.j.cn511374-20220303-00183
- Author:
Zhigang YANG
1
,
2
;
Yali QUAN
;
Yuan WANG
;
Guohong CHEN
;
Yanli MA
;
Kaili XU
Author Information
1. Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450053, China. yzg19861015@
2. com.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Humans;
Amino Acid Metabolism, Inborn Errors/genetics*;
Genetic Counseling;
Genomics;
High-Throughput Nucleotide Sequencing;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(8):986-989
- CountryChina
- Language:Chinese
-
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.
