Search for: [Abstract = "Background. 22q11.2 deletion syndrome is one of the most common genetic causes of congenital heart defects. The syndrome is usually a consequence of a heterozygotic deletion in the long arm of the 22 chromosome, but alsomutations in the TBX1 gene were described. Aims. The main goal of the study was mutation analysis of the coding and regulatory sequences of the TBX1 gene in the cohort of non\-deleted patients with features compatible with 22q11.2 deletion syndrome. Materials and methods. 170 patients with conotruncal hear defect from the Pediatric Cardiology Department of the Jagiellonian University were enrolled in the study. The major inclusion criterion was the presence of a conotruncal heart defect. Microdeletion 22q11.2 was screened by MLPA and confirmed by FISH. In the group of non\-deleted patients, mutation analysis of the TBX1 gene was performed by DHPLC and direct sequencing. Results. A typical 22q11.2 microdeletion was detected in 14\/170 \(8,2%\) patients In the remaining 156\/170 non\-deleted individuals no mutations were detected in the coding and regulatory sequences of the TBX1 gene. There were no associations between detected polymorphisms and phenotype. Conclusion. Results of mutation analysis of the coding and regulatory sequences of the TBX1 gene in the cohort of non\-deleted patients with features compatible with 22q11.2 deletion syndrome were negative."]

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