一个患有常染色体隐性高免疫球蛋白E综合征的中国家庭中DOCK8基因的新型大片段缺失。
A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome.
作者信息
Xue L, Yang Y, Wang S
机构信息
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
出版信息
J Eur Acad Dermatol Venereol. 2015 Mar;29(3):599-601. doi: 10.1111/jdv.12394. Epub 2014 Feb 17.
BACKGROUND
Autosomal-recessive hyper-IgE syndrome (AR-HIES; OMIM 243700) is a rare primary immunodeficiency disorder mainly caused by mutations in the dedicator of cytokinesis-8 (DOCK8) gene. DOCK8 is highly expressed in the immune system and plays important roles in regulation of lymphocyte functions.
OBJECTIVE
We analysed the molecular basis of AR-HIES in a Chinese family.
METHODS
A Chinese pedigree of typical AR-HIES was subjected to mutation detection in the DOCK8 gene. All exons of the DOCK8 gene and adjacent exon-intron border sequences were amplified using polymerase chain reaction and directly sequenced.
RESULTS
We identified a novel large deletion of 1481 bp in the DOCK8 gene, encompassing the totality of exon 11 (c.1126_1285del).
CONCLUSION
Our data expand the spectrum of mutations in the DOCK8 gene underlying AR-HIES.
背景
常染色体隐性高免疫球蛋白E综合征（AR-HIES；OMIM 243700）是一种罕见的原发性免疫缺陷疾病，主要由胞质分裂调控蛋白8（DOCK8）基因突变引起。DOCK8在免疫系统中高度表达，在淋巴细胞功能调节中发挥重要作用。
目的
我们分析了一个中国家系中AR-HIES的分子基础。
方法
对一个典型AR-HIES的中国家系进行DOCK8基因突变检测。使用聚合酶链反应扩增DOCK8基因的所有外显子及相邻的外显子-内含子边界序列，并直接进行测序。
结果
我们在DOCK8基因中鉴定出一个1481 bp的新型大片段缺失，涵盖第11外显子全长（c.1126_1285del）。
结论
我们的数据扩展了AR-HIES潜在的DOCK8基因突变谱。
Zotero 插件