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.

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

scholarly journals Striking Cardiac Phenotypic Variability in A Chinese Family With A MYH7 Splice Site Mutation

2021 ◽  
Author(s):  
Peng Tu ◽  
Hairui Sun ◽  
Xiaohang Zhang ◽  
Qian Ran ◽  
suzhen Ran ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Phenotypic Variability ◽  
Splice Site Mutation ◽  
Left Ventricular ◽  
Chinese Family ◽  
Site Mutation ◽  
Cardiac Phenotype ◽  
Whole Exome

Abstract Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect (CHD), genetics defects have been found in patients with LVNC and their family members; and MYH7 is the most common genetic associated with LVNC. Methods: A trio (fetus and the parents) whole-exome sequencing (WES) was performed when the fetus was found with Ebstein's anomaly (EA), heart dilatation, perimembranous ventricular septal defects (VSD), mild seroperitoneum and single umbilical artery (SUA).Results: Whole-exome sequencing identified a maternal inherited heterozygous splice site mutation in MYH7 (NM_000257.3:c.732+1G>A). Subsequent Sanger sequencing confirmed that the mutation was heterozygous in the fetus, the old sister, the grandmother, and the mother. QPCR experiment using RNA from blood lymphocytes but were unable to amplify any product.Conclusion: This familial case underlines that the striking cardiac phenotypic of MYH7 mutation (the c.732+1G>A spice site variant) may be highly variable. The mechanistic studies which could uncover candidate genes modulating cardiac phenotype associated with LVNC/EA should be proceed.

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

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

Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy

Cardiology ◽  
2016 ◽  
Vol 136 (1) ◽  
pp. 10-14 ◽  
Author(s):  
Ji-Shi Liu ◽  
Liang-Liang Fan ◽  
Hao Zhang ◽  
Xiaoxian Liu ◽  
Hao Huang ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Nonsense Mutation ◽  
Novel Mutations ◽  
Chinese Families ◽  
Structure Changes ◽  
Whole Exome ◽  
Gene Filtering

Objectives: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. Methods: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequencing was applied to confirm the mutation cosegregation in the affected families. Results: A nonsense mutation (c.12325C>T/p.R4109X) and a missense mutation (c.17755G>C/p.G5919R) of TTN were identified in 2 Chinese DCM families, respectively. Both mutations were cosegregated in all affected members of both families. The nonsense mutation is predicted to result in a truncated TTN protein and the missense mutation leads to a substitution of glycine by arginine. Both variants may cause the structure changes of titin protein. Conclusions: We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative.

scholarly journals Novel splice-site mutation inWDR62revealed by whole-exome sequencing in a Sudanese family with primary microcephaly

2016 ◽  
Vol 56 (3) ◽  
pp. 135-137 ◽  
Author(s):  
Fatma Bastaki ◽  
Madiha Mohamed ◽  
Pratibha Nair ◽  
Fatima Saif ◽  
Nafisa Tawfiq ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Primary Microcephaly ◽  
Site Mutation ◽  
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 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
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