Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1 Publisher Pubmed



Teimourian S^{1, 6} ; De Boer M⁸ ; Roos D⁸ ; Isaian A⁷ ; Bemanian MH² ; Lashkary S¹ ; Nabavi M² ; Arshi S² ; Nateghian A³ ; Sayyahfar S³ ; Sazgara F¹ ; Taheripak G⁴ ; Alipour Fayez E⁵ Show Affiliations
Source: Journal of Pediatric Hematology/Oncology Published:2019

Abstract

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.