中国当代儿科杂志Issue(2)：147-151,5.DOI:10.7499/j.issn.1008-8830.2016.02.010
1例自身免疫性多内分泌腺病综合征Ⅰ型患者的临床及家系AIRE基因突变分析
Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family：a report of one case
孙永香 1何亚非 1栗夏连1
作者信息
- 1. 郑州大学第一附属医院内分泌科，河南 郑州 450052
- 折叠
摘要
Abstract
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 .关键词
自身免疫性多内分泌腺病综合征Ⅰ型/自身免疫调节因子/基因突变Key words
Autoimmune polyendocrinopathy syndrome type I/Autoimmune regulator/Gene mutation引用本文复制引用
孙永香,何亚非,栗夏连..1例自身免疫性多内分泌腺病综合征Ⅰ型患者的临床及家系AIRE基因突变分析[J].中国当代儿科杂志,2016,(2):147-151,5.
