The clinical data of one patient with autoimmune polyendocrinopathy syndrome type I were collected. PCR-DNA direct bidirectional sequencing was applied for mutation screening of 14 exons in autoimmune regulator (AIRE) gene in the patient and her parents. A total of 50 unrelated healthy controls were selected and tested. The bioinformatic methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein. The results of sequencing showed that heterozygous mutation c.622G>T (p.G208W) in exon 5 of the AIRE gene was detected in the patient and was a novel mutation, which had not been reported in the HGMD database and latest articles. This mutation was not detected in the 50 unrelated normal controls. The novel mutation of c.622G>T (p.G208W) in AIRE gene might play an important role in the pathogenesis of this case of autoimmune polyendocrinopathy syndrome type I.
收集1例自身免疫性多内分泌腺病综合征Ⅰ型患者的临床资料, 应用PCR-DNA直接双向测序法对患者及其父母自身免疫调节因子(AIRE)基因的14个外显子进行突变筛查, 同时选取50名无血缘关系的正常对照人群进行检测。并用生物学信息方法进行结构和功能预测。基因的序列分析结果显示患儿携带AIRE基因第5外显子的杂合突变, 即c.622G > T(p.G208W)。经检索人类基因突变数据库和最新文献, 此突变为新突变。50名无血缘关系的正常对照人群未检测到该突变。AIRE基因中的新发突变[c.622G>T(p.G208W)]可能在本例患者的发病机制中扮演着重要角色。