Genetic Analysis of 13 Iranian Families with Leukocyte Adhesion Deficiency Type 1

Teimourian, S. and De Boer, M. and Roos, D. and Isaian, A. and Bemanian, M.H. and Lashkary, S. and Nabavi, M. and Arshi, S. and Nateghian, A. and Sayyahfar, S. and Sazgara, F. and Taheripak, G. and Alipour Fayez, E. (2019) Genetic Analysis of 13 Iranian Families with Leukocyte Adhesion Deficiency Type 1. Journal of Pediatric Hematology/Oncology, 41 (1). E3-E6.

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Background and Aim: Leukocyte adhesion deficiency type 1 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene. This gene encodes the CD18 subunit of β2 integrin leukocyte adhesion cell molecules. Leukocyte adhesion deficiency type 1 is characterized by recurrent bacterial infections, impaired wound healing, inadequate pus formation, and delayed separation of the umbilical cord. Materials and Methods: Blood samples were taken from 13 patients after written consent had been obtained. Genomic DNA was extracted, and ITGB2 exons and exon-intron boundaries were amplified by polymerase chain reaction. The products were examined by Sanger sequencing. Results: In this study, 8 different previously reported mutations (intron7+1G>A, c.715G>A, c.1777 C>T, c.843del C, c.1768T>C, c.1821C>A, Intron7+1G>A, c.1885G>A) and 2 novel mutations (c.1821C>A; p.Tyr607Ter and c.1822C>T; p.Gln608Ter) were found. Conclusions: c.1821C>A (p.Tyr607Ter) and c.1822C>T (p.Gln608Ter) mutations should be included in the panel of carrier detection and prenatal diagnosis. © 2018 Wolters Kluwer Health, Inc. All rights reserved.

Item Type: Article
Additional Information: cited By 1
Subjects: WC Communicable Diseases
QZ Pathology
Depositing User: eprints admin
Date Deposited: 11 Oct 2020 07:38
Last Modified: 11 Oct 2020 07:38

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