[一例孤立性亚硫酸盐氧化酶缺乏症患儿的临床特征及基因变异分析]
[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].
作者信息
Yang Zhigang, Quan Yali, Wang Yuan, Chen Guohong, Ma Yanli, Xu Kaili
机构信息
Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450053, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):986-989. doi: 10.3760/cma.j.cn511374-20220303-00183.
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.
目的
探索一名患有孤立性亚硫酸盐氧化酶缺乏症（ISOD）儿童的遗传基础。
方法
对该儿童及其父母进行靶向捕获和二代测序。根据美国医学遗传学与基因组学学会（ACMG）的指南评估候选变异的致病性。
结果
发现该儿童携带SUOX基因的复合杂合变异，即c.1200C>G（p.Tyr400*）和c.1406_1421delCCTGGCAGGTGGCTAA（p.Thr469Serfs*20），分别遗传自她的母亲和父亲。c.1200C>G是已知的致病性变异，而c.1406_1421delCCTGGCAGGTGGCTAA此前未被报道，根据美国医学遗传学与基因组学学会的指南预测为致病性变异（PVS1+PM2_Supporting+PM3）。
结论
SUOX基因的复合c.1200C>G和c.1406_1421delCCTGGCAGGTGGCTAA变异可能是该儿童ISOD发病机制的基础。上述发现扩展了SUOX基因变异谱，并为该家系的临床诊断和遗传咨询提供了分子证据。
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