In:
Journal of Pediatric Hematology/Oncology, Ovid Technologies (Wolters Kluwer Health), Vol. 41, No. 1 ( 2019-01), p. e3-e6
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1077-4114
DOI:
10.1097/MPH.0000000000001221
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2019
detail.hit.zdb_id:
2047125-7
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