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en Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy زیست شناسی ملکولی Molecular Biology گزارش مورد Case Report <div style="text-align: justify;">Background: <a name="_Hlk68880662">Dilated cardiomyopathy (DCM) is a progressive heart condition characterized by left ventricular chamber enlargement associated with systolic heart failure and prolonged action potential duration. Genetic variations in genes that encode cytoskeleton, sarcomere, and nuclear envelope proteins are responsible for 45% of cases. In our study, we focused on a</a> pedigree with familial DCM to decipher the potential genetic cause(s) in affected members developing arrhythmia, end-stage heart failure, and sudden death. Methods: Whole-exome sequencing (WES) was exploited for a 27-year-old heart-transplanted female as the proband, and the derived data were filtered using the standard pipelines. Results: A 57-nucleotide deletion (c.405_422+39del) in the desmoplakin gene (DSP) (NM_004415.4) was identified as a novel pathogenic variant. Familial segregation analysis indicated that this variant is present in clinically affected members and absent in unaffected members. Conclusions: It seems that the detected variant induces intron retention, resulting in a premature stop codon in intron 3 of DSP leading to production of a truncated, nonfunctional protein. Additionally, it can trigger a nonsense-mediated mRNA decay pathway associated with inhibition of protein production. The present study results illustrated that a novel deletion in DSP can cause DCM in an Iranian family.</div> Desmoplakin, Dilated cardiomyopathy, Pathogenic variant, Whole exome sequencing. 280 287 http://rbmb.net/browse.php?a_code=A-10-683-1&slc_lang=en&sid=1 Yeganeh Eshaghkhani 100319475328460012659 100319475328460012659 No Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Arezoo Mohamadifar 100319475328460012660 100319475328460012660 No Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Science, Tehran, Iran. Mostafa Asadollahi 100319475328460012661 100319475328460012661 No Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Mahdieh Taghizadeh 100319475328460012662 100319475328460012662 No Watson Genetic Laboratory, North Kargar Street, Tehran, Iran. Arezou Karamzade 100319475328460012663 100319475328460012663 No Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Mohammad Saberi 100319475328460012664 100319475328460012664 No Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Parisa Nourmohammadi 100319475328460012665 100319475328460012665 No Watson Genetic Laboratory, North Kargar Street, Tehran, Iran. Zahra Golchehre 100319475328460012666 100319475328460012666 No Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Ahmad Amin 100319475328460012667 100319475328460012667 No Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Science, Tehran, Iran. Mohammad Keramatipour 100319475328460012668 100319475328460012668 Yes Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran & Watson Genetic Laboratory, North Kargar Street, Tehran, Iran.