Analysis ofSUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency
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目的 探讨1例早发型亚硫酸盐氧化酶缺乏症(ISOD)患儿的临床表现及遗传学特征。 方法 分析于2020年5月10日收治于青岛大学附属威海医院的1例ISOD患儿为研究对象，分析其临床资料，对其进行家系全外显子组测序，用Sanger测序对候选变异进行验证。 结果 患儿为女性，出生后因"羊水Ⅱ度污染、呼吸费力11 min"转入重症监护室，表现为纳差伴频繁抽搐。基因检测提示患儿携带SUOX基因c.1200C>G和c.188G>A复合杂合变异，分别遗传自其母亲与父亲，其中c.1200C>G为已知致病变异，c.188G>A既往未见报道，根据美国医学遗传学与基因组学学会相关指南判断为意义未明变异。 结论 SUOX基因c.1200C>G和c.188G>A复合杂合变异可能是导致患儿发病的原因。c.188G>A的检出丰富了SUOX基因的变异谱，为患儿的临床诊断和遗传咨询提供了依据。 Objective To explore the clinical features and genetic basis for a child with early-onset Isolated sulfite oxidase deficiency (ISOD). Methods A child with ISOD who was admitted to Weihai Hospital Affiliated to Qingdao University on May 10, 2020 was selected as the study subject. Clinical data of the child was analyzed. The child and her parents were subjected to trio-whole exome sequencing, and candidate variants were verified by Sanger sequencing. Results The female neonate was transferred to the intensive care unit due to "secondary pollution of amniotic fluid and laborious breathing for 11 minutes" , and had developed frequent convulsions. Genetic testing revealed that she has harbored c. 1200C>G and c. 188G>A compound heterozygous variants of the SUOX gene, which were inherited from her mother and father, respectively. The c. 1200C>G has been described previously and was rated as pathogenic based on guidelines from the American College of Medical Genetics and Genomics, whilst the c. 188G>A variant was unreported previously and rated as a variant of unknown significance. Conclusion The compound heterozygous variants of the SUOX gene probably underlay the ISOD in this child. Above finding has enriched the spectrum of SUOX gene variants and provided a basis for the clinical diagnosis and genetic counseling.
Objective To explore the clinical features and genetic basis for a child with early-onset Isolated sulfite oxidase deficiency (ISOD). Methods A child with ISOD who was admitted to Weihai Hospital Affiliated to Qingdao University on May 10, 2020 was selected as the study subject. Clinical data of the child was analyzed. The child and her parents were subjected to trio-whole exome sequencing, and candidate variants were verified by Sanger sequencing. Results The female neonate was transferred to the intensive care unit due to "secondary pollution of amniotic fluid and laborious breathing for 11 minutes" , and had developed frequent convulsions. Genetic testing revealed that she has harbored c. 1200C>G and c. 188G>A compound heterozygous variants of the SUOX gene, which were inherited from her mother and father, respectively. The c. 1200C>G has been described previously and was rated as pathogenic based on guidelines from the American College of Medical Genetics and Genomics, whilst the c. 188G>A variant was unreported previously and rated as a variant of unknown significance. Conclusion The compound heterozygous variants of the SUOX gene probably underlay the ISOD in this child. Above finding has enriched the spectrum of SUOX gene variants and provided a basis for the clinical diagnosis and genetic counseling.
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