Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy

Eshaghkhani, Yeganeh; Mohamadifar, Arezoo; Asadollahi, Mostafa; Taghizadeh, Mehdi; Karamzade, Arezou; Saberi, Mohammad Reza; Nourmohammadi, Parisa; Golchehre, Zahra; Amin, Ahmad; Keramatipour, Mohammad

doi:10.52547/rbmb.10.2.280

Cited by 2 publications

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References 23 publications

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“…There is, however, a dearth of information on the genetics of DCM in Iranian patients. Previous investigations have demonstrated associations between DCM and δSG [ 57 ] , LMNA [ 58 ] , FLNC [ 59 ] , desmoplakin (DSP) [ 60 ], MYBPC3 , troponin T type 2 ( TNNT2 ), myosin heavy polypeptide 7 ( MYH7 ) [ 61 ], and PLN [ 62 ] . The finding of a mutation in the RBM20 gene in the present study, along with other studies, in Iranian patients highlights the genetic heterogeneity and wide spectrum of mutations in Iranians and underscores the need for further comprehensive studies.…”

Section: Discussionmentioning

confidence: 99%

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

et al. 2022

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Introduction Dilated cardiomyopathy (DCM) is characterized by the dilation and impaired contraction of 1 or both ventricles and can be caused by a variety of disorders. Up to 50% of idiopathic DCM cases have heritable familial diseases, and the clinical screening of family members is recommended. Identifying a genetic cause that can explain the DCM risk in the family can help with better screening planning and clinical decision-making. Whole-exome sequencing (WES) has aided significantly in the detection of causative genes in many genetically heterogeneous diseases. In the present study, we applied WES to identify the causative genetic variant in a family with heritable DCM. Methods WES was applied to identify genetic variants on a 26-year-old man as the proband of a family with DCM. Subsequently, Sanger sequencing was performed to confirm the variant in the patient and all the available affected and unaffected family members. The pathogenicity of the variant was evaluated through co-segregation analysis in the family and employment of in silico predictive software. Results WES demonstrated the missense pathogenic heterozygous nucleotide variant, c.1907G > A, (p.Arg636His, rs267607004, NM_0011343), in exon 9 of the RBM20 gene in the proband. The variant was co-segregated in all the affected family members in a heterozygous form and the unaffected family members. The in silico analysis confirmed the variant as pathogenic. Conclusion Pathogenic RBM20 nucleotide variants are associated with arrhythmogenic DCM. We believe that our report is the first to show an RBM20 variant in Iranian descent associated with DCM.

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Section: Discussionmentioning

confidence: 99%

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

et al. 2022

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Correlation between Levels of Serum Lipoprotein-Associated Phospholipase A2 and Soluble Suppression of Tumorigenicity 2 and Condition of Acute Heart Failure Patients and Their Predictive Value for Prognosis

Zhang

Wang

Zhao

et al. 2021

Journal of Healthcare Engineering

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Objective. To explore the correlation between levels of serum lipoprotein-associated phospholipase A2 (LP-PLA2) and soluble suppression of tumorigenicity 2 (sST2) and condition of acute heart failure (AHF) patients and their predictive value for prognosis. Methods. The data of patients who complained of acute dyspnea and were treated in our hospital (January 2018–January 2020) were selected for review analysis, and those diagnosed with AHF by means of chest films, physical examination, cardiogram, and color Doppler ultrasonography (CDS) were selected as the study objects. The patients were split into the mild group (I or II, 55 cases) and the severe group (III or IV, 50 cases) according to the clinical condition grading standard in Guidelines for Diagnosis and Treatment of Acute Heart Failure. In addition, 105 healthy individuals examined in our medical center in the same period were selected as the control group. The serum LP-PLA2 and sST2 levels of all study objects were measured to analyze the correlation between these levels and AHF condition. Readmission due to heart failure and all-cause death were regarded as the endpoint events, and after one year of follow-up visits, the occurrence of the endpoint events in patients of the two groups was recorded, and with the endpoint events as the variable, the patients were divided into the event group and nonevent group to establish a logistic regression analysis model and analyze the merit of serum LP-PLA2 and sST2 in evaluating patient outcome. Results. The patients’ general information such as age and gender between the severe group and the mild group were not statistically different ( P > 0.05 ), and the levels of high-sensitivity c-reactive protein (CRP), hemoglobin, creatinine, and uric acid of the severe group were greatly different from those of the mild group ( P < 0.001 ), the comparison result of serum LP-PLA2 and sST2 levels was severe group > mild group > control group ( P all <0.001), and the serum LP-PLA2 and sST2 levels of the severe group were, respectively, 275.98 ± 50.68 ng/ml and 2,122.65 ± 568.65 ng/ml; among 105 AHF patients, 50 of them had endpoint events (47.6%), including 36 in the severe group (36/50, 72.0%) and 14 in the mild group (14/55, 25.5%), and the event group presented greatly higher serum LP-PLA2 and sST2 levels than in the nonevent group ( P < 0.001 ); according to the logistic regression analysis, serum LP-PLA2 and sST2 had independent predictive value for prognosis of AHF patients, which could be used as the independent predictive factors for 1-year prognosis. Conclusion. Serum LP-PLA2 and sST2 have a good diagnosis value for the condition and prognosis of AHF patients, which shall be promoted and applied in practice.

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Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy

Cited by 2 publications

References 23 publications

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

Correlation between Levels of Serum Lipoprotein-Associated Phospholipase A2 and Soluble Suppression of Tumorigenicity 2 and Condition of Acute Heart Failure Patients and Their Predictive Value for Prognosis

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