The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
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三个 CYBA 变异（rs4673、rs1049254 和 rs1049255）是良性的：来自 CGD 患者的新证据
DOI：
10.1186/s12881-017-0492-6
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发表时间：
2017-11-13
影响因子：
--
通讯作者：
Wang X
中科院分区：
文献类型：
--
作者：
Sun J;Wen M;Wang Y;Liu D;Ying W;Wang X
背景：慢性肉芽肿病（CGD）是一种由NADPH氧化酶缺陷引起的遗传性免疫缺陷病。CYBB或CYBA基因突变可导致膜亚基gp91phox或p22phox表达失败和NADPH氧化酶缺陷。以前的研究表明，c.214 T > C（rs4673）、c.521 T > C（rs1049254）和c.* 24G > A（rs1049255）在CYBA基因中形成单倍型，与活性氧生成减少有关。本研究旨在证实上述三种变异均为良性变异，并报道CYBB基因的一种新突变。流式细胞术检测中性粒细胞NADPH氧化酶活性和gp91phox蛋白表达。结果：根据临床和免疫表型诊断为CGD。该病例存在CYBB基因的一种新的纯合突变和CYBA基因的上述三种变异。结论：本研究不仅报道了导致CGD的CYBB基因突变，而且证实了CYBA基因的上述三种变异均为良性。
Background:Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression failure respectively and NADPH oxidase deficiency. Previous study showed that three variants, c.214 T > C (rs4673), c.521 T > C (rs1049254) and c.*24G > A (rs1049255), in CYBA gene form a haplotype, which are associated with decreased reactive oxygen species generation. The study aims to confirm the three above mentioned variants are benign and report a novel mutation in CYBB gene.Methods:A patient with CGD and his family members were enrolled in the study. NADPH oxidase activity and gp91phox protein expression of neutrophils were analyzed by flow cytometry. Direct sequencing was used to detect CYBB and CYBA gene mutations.Results:The patient was diagnosed with CGD according to clinical and immune phenotype. The case has a novel homozygous mutation in CYBB gene and the above mentioned three variants in CYBA gene. The mutation in CYBB gene was confirmed to be pathogenic, and the three variants in CYBA gene to be benign.Conclusions:The study not only reported a novel mutation in CYBB, which results in CGD, but also confirmed the above mentioned three variants in CYBA are benign.
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