Author/Authors :
Aghamohammadi, Asghar Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Parvaneh, Nima Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Kanegana, Hirokazu Department of Pediatrics - Faculty of Medicine - Toyama Medical and Pharmaceutical University - Toyama, Japan , Moin, Mostafa Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Amirzargar, Ali Akbar Department of Immunology - Tehran University of Medical Sciences, Tehran , Farhoudi, Abolhassan Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Pourpak, Zahra Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Movahedi, Masoud Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Gharagozlou, Mohammad Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Rezaei, Nima Department of Clinical Pediatric Immunology of Children's Medical Center - Immunology - Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Futatani, Takeshi Department of Pediatrics - Faculty of Medicine - Toyama Medical and Pharmaceutical University - Toyama, Japan , Miyawaki, Toshio Department of Pediatrics - Faculty of Medicine - Toyama Medical and Pharmaceutical University - Toyama, Japan
Abstract :
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations
in the Bruton tyrosine kinase (Btk) gene. In order to identify the mutations in Btk gene
in Iranian patients with antibody deficiency, 13 male patients with an XLA phenotype
from 11 unrelated families were enrolled as the subjects of investigation for Btk
mutation analysis using PCR-SSCP followed by sequencing. Five different mutations
were identified in 5 patients from 5 unrelated families. Three mutations had been
reported previously including TTTG deletion in intron 15 (4 bps upstream of exon 16
boundary), nonsense point mutation (1896G>A) that resulted in a premature stop
codon (W588X) in kinase domain, and nucleotide alteration in invariant splice donor
site of exon12 (IVS12+1G>A). While 2 novel missense mutations (2084A>G,
1783T>C) were identified leading to amino acid changes (I651T, Y551H). The results
of this study further support the notion that molecular genetic testing represents an
important tool for definitive and early diagnosis of XLA and may allow accurate
carrier detection and prenatal diagnosis.
Keywords :
Agammaglobulinaemia Tyrosine Kinase , Bruton's Tyrosine Kinase , Iran , X-linked Genetic Disease
