scholarly journals Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy

2013 ◽  
Vol 6 (4) ◽  
pp. 317-326 ◽  
Author(s):  
Quinn S. Wells ◽  
Jason R. Becker ◽  
Yan R. Su ◽  
Jonathan D. Mosley ◽  
Peter Weeke ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Large Pedigree ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

scholarly journals Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy

Medicine ◽  
2017 ◽  
Vol 96 (33) ◽  
pp. e7727 ◽  
Author(s):  
Hai-Xin Yuan ◽  
Kai Yan ◽  
Dong-Yan Hou ◽  
Zhi-Yong Zhang ◽  
Hua Wang ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

Novel Mutations in Familial Dilated Cardiomyopathy Identified by Whole Exome Sequencing

2013 ◽  
Vol 29 (10) ◽  
pp. S364
Author(s):  
R. Tadros ◽  
N. Chami ◽  
M. Beaudoin ◽  
K. Lo ◽  
L. Robb ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutations ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

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

2021 ◽  
Vol 10 (2) ◽  
pp. 280-287
Author(s):  
Yeganeh Eshaghkhani ◽  
Arezoo Mohamadifar ◽  
Mostafa Asadollahi ◽  
Mahdieh Taghizadeh ◽  
Arezou Karamzade ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome ◽  
Novel Variant

scholarly journals Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

2020 ◽  
Vol 4 (4) ◽  
pp. 229-237
Author(s):  
Ying Peng ◽  
Jinxin Miao ◽  
Yafei Zhai ◽  
Guangming Fang ◽  
Chuchu Wang ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Symptoms ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Chinese Families ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome ◽  
The Relationship

Familial dilated cardiomyopathy (DCM) is associated with numerous genes, especially those of the sarcomere family. The titin gene (TTN) consists of 365 exons and encodes the largest sarcomere protein (titin) in our bodies. Titin is associated with many diseases, such as hypertrophic cardiomyopathy and DCM. Here we screened three Chinese families affected by DCM, and found that each harbors a stop-gain or splice site mutation in TTN (c.G20137T,c. G52522T,c.44610-2A>C). Assessment of the probands by electrocardiogram, B-mode echocardiography, and cardiac magnetic resonance imaging revealed impaired cardiac function, arrhythmia, or abnormal cardiac structure. In conclusion, using whole exome sequencing, we found three unreported TTN mutations associated with DCM. This has expanded the TTN mutation spectrum of Chinese DCM patients, especially in Henan, the most populous province. These data provide new genetic targets for the diagnosis and treatment of DCM, and will increase our understanding of the relationship between TTN mutation and DCM clinical symptoms.

Abstract 11800: Whole Exome Sequencing in a Large Pedigree With DCM Identifies a Novel Mutation in RBM20

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Tomas Robyns ◽  
Johan Van Cleemput ◽  
Rik Willems ◽  
Shalini Jhangiani ◽  
Donna Muzny ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Scoring System ◽  
Diagnostic Yield ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Large Pedigree ◽  
Whole Exome

Background and hypothesis: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 30 different genes. None of these genes have an expected diagnostic yield of more than 10% complicating genetic diagnosis. Whole exome sequencing (WES) is a powerful alternative for the identification of the causal gene, however variant interpretation remains challenging. We performed WES in a large family with autosomal dominant DCM complicated by end stage heart failure and ventricular arrhythmias. The index of this family was evaluated previously by means of targeted gene panel analysis including 28 genes, but no causal mutation was found. Methods and results: WES was applied on 2 affected cousins. First, shared heterozygous variants (single nucleotide variants, small insertions and deletions) located inside the exon or at the exon/intron boundary were selected. Synonymous variants were excluded, except if they were located at the exon/intron boundaries. Variants with a minor allele frequency of >0.1% in publically available exome databases (1000 Genomes and ESP) were excluded. Furthermore, variants that were present in an in-house exome cohort performed for other disease entities were also excluded since these probably represent local SNV’s. The remaining 19 variants were evaluated using a comprehensive scoring system that includes different in-silico analysis tools, orthologous and paralogous conservation and population frequencies. Subsequently Sanger sequencing was performed for 10 variants that were classified as likely pathogenic (N=1) or variants of unknown significance (N=9) according to the scoring system in order to confirm the presence of the variant and to evaluate co-segregation. Only one variant in exon 9 of the RBM20 gene (c.2714T>A, p.Met950Lys, NM_001334363) showed full co-segregation in the 7 affected family members resulting in a maximum 2-point LOD score of 2.1 and suggesting this as the pathogenic mutation responsible for the phenotype. Recently mutations in RBM20 have been linked to dilated cardiomyopathy caused by defective splicing of the giant sarcomeric protein titin. Conclusions: We report the identification of a novel mutation in RBM20 by WES in a large pedigree with DCM.

scholarly journals Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e78104 ◽  
Author(s):  
Nzali Campbell ◽  
Gianfranco Sinagra ◽  
Kenneth L. Jones ◽  
Dobromir Slavov ◽  
Katherine Gowan ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Troponin T ◽  
Hot Spot ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

scholarly journals WHOLE EXOME SEQUENCING IDENTIFIES A TROPONIN T MUTATION HOT SPOT IN FAMILIAL DILATED CARDIOMYOPATHY

2013 ◽  
Vol 61 (10) ◽  
pp. E594
Author(s):  
Luisa Mestroni ◽  
Nzali Campbell ◽  
Gianfranco Sinagra ◽  
Kenneth Jones ◽  
Dobromir Slavov ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Troponin T ◽  
Hot Spot ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

scholarly journals NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yu Xu ◽  
Yong-Biao Zhang ◽  
Li-Jun Liang ◽  
Jia-Li Tian ◽  
Jin-Ming Lin ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Sanger Sequencing ◽  
Conformational Stability ◽  
Sequencing Analysis ◽  
Large Pedigree ◽  
Whole Exome ◽  
Variant Filtering ◽  
Genetic Contributions

Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT. Methods We performed whole-exome sequencing to identify novel mutations in the pedigree after excluding three previously reported HHT-related genes using Sanger sequencing. We then performed in silico functional analysis of candidate mutations that were obtained using a variant filtering strategy to identify mutations responsible for HHT. Results After screening the HHT-related genes, activin A receptor-like type 1 (ACVRL1), endoglin (ENG), and SMAD family member 4 (SMAD4), we did not detect any co-segregated mutations in this pedigree. Whole-exome sequencing analysis of 7 members and Sanger sequencing analysis of 16 additional members identified a mutation (c.784A > G) in the NSF attachment protein gamma (NAPG) gene that co-segregated with the disease. Functional prediction showed that the mutation was deleterious and might change the conformational stability of the NAPG protein. Conclusions NAPG c.784A > G may potentially lead to HHT. These results expand the current understanding of the genetic contributions to HHT pathogenesis.

A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy

2018 ◽  
Vol 83 (2) ◽  
pp. 95-99 ◽  
Author(s):  
Shu‐Bing Zhang ◽  
Yu‐Xing Liu ◽  
Liang‐Liang Fan ◽  
Hao Huang ◽  
Jing‐Jing Li ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Family ◽  
Whole Exome ◽  
Heterozygous Variant
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