NOVEL MUTATIONS IN THE β 2 INTEGRIN GENE (ITGB2) IN A MODERATE LEUKOCYTE ADHESION DEFECT TYPE 1 PATIENT

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HU JIANXIA; ZHANG QIUYE; ZHENG HONGYING; CHANG HONG; XIAN YUWEI; NIE NANA; LIN YI

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2018 | Volume:21 | Issue:7 Page(s): 296-301

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Title

NOVEL MUTATIONS IN THE β 2 INTEGRIN GENE (ITGB2) IN A MODERATE LEUKOCYTE ADHESION DEFECT TYPE 1 PATIENT

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Keywords

GENE MUTATIONS

ITGB2

LEUKOCYTE ADHESION DEFICIENCY TYPE 1

Abstract

Background: LEUKOCYTE 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 β 2 subunit. Methods: We 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. Results: The 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. Conclusion: The 2 novel ITGB2 mutations affected the expression and function of CD18 and might be pathogenic genes for LAD1.

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APA: Copy

HU, JIANXIA, ZHANG, QIUYE, ZHENG, HONGYING, CHANG, HONG, XIAN, YUWEI, NIE, NANA, & LIN, YI. (2018). NOVEL MUTATIONS IN THE β 2 INTEGRIN GENE (ITGB2) IN A MODERATE LEUKOCYTE ADHESION DEFECT TYPE 1 PATIENT. ARCHIVES OF IRANIAN MEDICINE, 21(7), 296-301. SID. https://sid.ir/paper/281544/en

Vancouver: Copy

HU JIANXIA, ZHANG QIUYE, ZHENG HONGYING, CHANG HONG, XIAN YUWEI, NIE NANA, LIN YI. NOVEL MUTATIONS IN THE β 2 INTEGRIN GENE (ITGB2) IN A MODERATE LEUKOCYTE ADHESION DEFECT TYPE 1 PATIENT. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2018;21(7):296-301. Available from: https://sid.ir/paper/281544/en

IEEE: Copy

JIANXIA HU, QIUYE ZHANG, HONGYING ZHENG, HONG CHANG, YUWEI XIAN, NANA NIE, and YI LIN, “NOVEL MUTATIONS IN THE β 2 INTEGRIN GENE (ITGB2) IN A MODERATE LEUKOCYTE ADHESION DEFECT TYPE 1 PATIENT,” ARCHIVES OF IRANIAN MEDICINE, vol. 21, no. 7, pp. 296–301, 2018, [Online]. Available: https://sid.ir/paper/281544/en

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