Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Mutation Spectra of the Itgb2 Gene in Iranian Families With Leukocyte Adhesion Deficiency Type 1 Publisher Pubmed



Yassaee VR1, 2 ; Hashemigorji F1 ; Boosaliki S2 ; Parvaneh N3
Authors
Show Affiliations
Authors Affiliations
  1. 1. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Dept. of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Human Immunology Published:2016


Abstract

Leukocyte adhesion deficiency type 1 (LAD1) is an autosomal recessive disorder clinically characterized by severe, recurrent bacterial infections, impaired pus formation and wound healing. It is caused by mutation in the ITGB2 gene, encoding the β2 integrin subunit of the leukocyte adhesion cell molecule. This study aimed to identify disease causing mutations in 19 consanguineous families diagnosed with LAD1.Blood samples were collected after informed and written consent was obtained. Genomic DNA was extracted from peripheral blood of patients and their parents. PCR amplification of the ITGB2 gene was done using specific primers followed by sequencing for mutation detection.A total number of 14 alterations scattered throughout the ITGB2 gene were ascertained in which 10 mutations were previously reported, including c.329-6C>A, c.382G>T, c.715G>A, c.843delC, c.897+1G>A, c.1062A>T, c.1143delC, c.1877+2T>C, c.1907delA and c.2147G>C. Four novel likely pathogenic mutations consisting of c.576dupC (Asn193GlnfsX72), c.706G>A (Gly236Arg), c.897+1G>T and c.1030G>T (Glu344*), were identified. The majority of these mutations were located in exon six, suggesting this exon as a hotspot region probably.This study emphasis on allelic heterogeneity of the ITGB2 gene in Iranian patients diagnosed with LAD1. Our results suggest that every population should develop a mutation database for rare genetic disorders to take advantage in genetic counseling clinic as well as genetic testing for rapid diagnostic purposes. © 2015 American Society for Histocompatibility and Immunogenetics.
Related Docs
View other Related Docs
1. Investigation of Itgb2 Gene in 12 New Cases of Leukocyte Adhesion Deficiency-Type I Revealed Four Novel Mutations From Iran, Archives of Iranian Medicine (2015)
2. Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1, Journal of Pediatric Hematology/Oncology (2019)
3. Clinical and Immunological Characteristics of 69 Leukocyte Adhesion Deficiency-I Patients, Pediatric Allergy and Immunology (2023)
4. Mutation Characterization and Heterodimer Analysis of Patients With Leukocyte Adhesion Deficiency: Including One Novel Mutation, Immunology Letters (2017)
5. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis, Journal of Clinical Immunology (2018)
6. Hematologically Important Mutations: Leukocyte Adhesion Deficiency (Second Update), Blood Cells# Molecules# and Diseases (2023)
7. Co-Existence of Phenylketonuria Either With Maple Syrup Urine Disease or Sandhoff Disease in Two Patients From Iran: Emphasizing the Role of Consanguinity, Journal of Pediatric Endocrinology and Metabolism (2016)
8. “Oral Manifestations of Patients With Inherited Defect in Phagocyte Number or Function” a Systematic Review, Clinical Immunology (2021)
Experts (# of related papers)
View all Related Experts
Zahra Pourpak (3)
Amir Ali Hamidieh (3)
Other Related Docs
9. Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations, JIMD Reports (2015)
10. Identification of Six Novel Mutations in Iranian Patients With Maple Syrup Urine Disease and Their in Silico Analysis, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis (2016)
11. The Critical Role of Prenatal Genetic Study in Prevention of Primary Immunodeficiency in High-Risk Families: The Largest Report of 107 Cases, Iranian Journal of Allergy# Asthma and Immunology (2020)
12. Linkage Study Revealed Complex Haplotypes in a Multifamily Due to Different Mutations in Capn3 Gene in an Iranian Ethnic Group, Journal of Molecular Neuroscience (2016)
13. A Bioinformatics Approach to Prioritize Single Nucleotide Polymorphisms in Tlrs Signaling Pathway Genes, International Journal of Molecular and Cellular Medicine (2016)
14. Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort, Biochemical Genetics (2024)
15. Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum, Archives of Iranian Medicine (2020)
16. Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss, Iranian Biomedical Journal (2021)
17. Identification of Novel Functional Single Nucleotide Polymorphisms in the Brca1 Gene of Breast Cancer Patients, Iranian Journal of Science (2024)
18. Genotype-Phenotype Correlation and Description of Two Novel Mutations in Iranian Patients With Glycogen Storage Disease 1B (Gsd1b), Orphanet Journal of Rare Diseases (2020)
19. Genetic Analysis of Non-Severe Hemophilia a Phenotype With a Discrepancy Between One-Stage and Chromogenic Factor Viii Activity Assays, Transfusion and Apheresis Science (2021)
20. In Silico Analysis of Novel Mutations in Maple Syrup Urine Disease Patients From Iran, Metabolic Brain Disease (2017)
21. Maple Syrup Urine Disease Mutation Spectrum in a Cohort of 40 Consanguineous Patients and Insilico Analysis of Novel Mutations, Metabolic Brain Disease (2019)
22. Autozygosity Mapping of Methylmalonic Acidemia Associated Genes by Short Tandem Repeat Markers Facilitates the Identification of Five Novel Mutations in an Iranian Patient Cohort, Metabolic Brain Disease (2018)
23. Identification and Functional Characterization of Two Novel Srd5a2 Variants in Iranian Siblings With 5Α-Reductase Type 2 Deficiency: Expanding the Mutational Spectrum and Implications for Genetic Diagnosis, Human Gene (2025)