title: One missense mutation in exon 2 of the PAX5 gene in Iran.
abstract: The PAX5 gene, which encodes the B-cell specific activator protein, is one of the most important factors in determination of B-cell development. This gene is the main target of somatic mutations in acute B lymphoblastic leukemia (B-ALL). For example, point mutations, deletions, as well as other gene rearrangements may lead to several forms of B-cell malignancy. In this study, we obtained 50 blood samples from patients diagnosed with ALL, and screened for PAX5 mutations using sequencing in exons 1, 2 and 3. We found a heterozygous germline variant, c.113G>A (p.Arg38His), which affects the paired domain of PAX5. It seems that this mutation is pathogenic, but is recessive. Our findings suggest that this mutation in a single allele of the PAX5 gene is not sufficient to cause disease, and it is possible that other alleles are also involved in the onset of B-ALL.
authors.affiliation: Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Yazdanparast
authors.affiliation: Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
authors.forename: S R
authors.initials: SR
authors.lastname: Khatami
authors.affiliation: Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Galehdari
authors.affiliation: Shafa Hospital and Research Center of Thalassemia and Hemoglobinopathy, Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors.forename: K
authors.initials: K
authors.lastname: Jaseb
mesh_terms: D000293:Adolescent; D000328:Adult; D001402:B-Lymphocytes / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007492:Iran; D015448:Leukemia, B-Cell / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D051757:PAX5 Transcription Factor / Q000235:genetics*
chemical_list: D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human