A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome

作者：Xue, L.; Yang, Y.; Wang, S.^*

来源：Journal of the European Academy of Dermatology and Venereology, 2015, 29(3): 599-601.

DOI：10.1111/jdv.12394

• CYTOKINESIS 8 DOCK8
• DEFICIENCY
• DEDICATOR
• MUTATIONS

BackgroundAutosomal-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.
ObjectiveWe analysed the molecular basis of AR-HIES in a Chinese family.
MethodsA 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.
ResultsWe identified a novel large deletion of 1481bp in the DOCK8 gene, encompassing the totality of exon 11 (c.1126_1285del).
ConclusionOur data expand the spectrum of mutations in the DOCK8 gene underlying AR-HIES.

• 出版日期2015-3
• 单位四川大学