|تاریخ چاپ: 1399/09/09|
|Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient|
|Author(s):||Jianxia Hu، Qiuye Zhang، Hongying Zheng، Hong Chang، Yuwei Xian، Nana Nie، Yi Lin*|
BackgroundLeukocyte adhesion deficiency type 1 (LAD1) is an autosomal recessive disorder caused by reduced expression or function of CD18. It was well accepted that LAD1 resulted from mutations in the gene for the integrin β2 subunit.
MethodsWe reported a moderate LAD1 patient with 2 novel ITGB2 mutations, and further investigated the role of the 2 mutations on the expression and function of CD18 by gene transfection.
ResultsThe 2 novel mutations included a frameshift deletion viz c.954G del, which was considered as a major pathogenic gene for the patient, and a missense mutation viz c.1802C>A (Cys601Phe), which caused a damaging effect on the ITGB2 protein. There was no significant difference in protein expression between 293 T cells with mutant ITGB2 p.601C>F and 293 T cells with wild type ITGB2. When investigating the cellular location of the mutant ITGB2 in HeLa cells, we found that the mutant ITGB2 (p.601C>F) protein could not locate to the cell membrane. This indicated that the mutant ITGB2 protein could not perform its function at cell membrane level.
ConclusionThe 2 novel ITGB2 mutations affected the expression and function of CD18 and might be pathogenic genes for LAD1.
|Keywords:||Gene mutations، ITGB2، Leukocyte adhesion deficiency type 1|
|Article Type:||Research/Original Article|
|Published:||Archives of Iranian Medicine, Volume:21 Issue: 7, 2018|
|Full text:||PDF is available on the website.|