Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction
Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood...
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| Vydané v: | Molecular genetics & genomic medicine Ročník 8; číslo 4; s. e1152 - n/a |
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| Hlavní autori: | , , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
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United States
John Wiley & Sons, Inc
01.04.2020
John Wiley and Sons Inc Wiley |
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| ISSN: | 2324-9269, 2324-9269 |
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| Abstract | Background
Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC.
Methods
We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models.
Results
Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch‐like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC‐affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase.
Conclusion
In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin‐mediated protein degradation during cardiac development.
Patient's Ebstein's anomaly (EA), a rare congenital heart disease of the tricuspid valve and right ventricle often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Our study identifies a novel, rare, and damaging coding variant c.709C > T (p.R237C) in the Kelch‐like family member 26 (KLHL26) gene with 10 affected out of 17 affected members using Sanger sequencing. Through structural modeling, we show that the KLHL26 variant may affect protein binding to Cullin3 (CUL3), a component of E3 ubiquitin ligase in the ubiquitin‐mediated protein degradation. |
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| AbstractList | Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC.BACKGROUNDEbstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC.We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models.METHODSWe performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models.Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch-like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC-affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase.RESULTSExome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch-like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC-affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase.In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin-mediated protein degradation during cardiac development.CONCLUSIONIn this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin-mediated protein degradation during cardiac development. Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC. Methods We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models. Results Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch‐like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC‐affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase. Conclusion In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin‐mediated protein degradation during cardiac development. Patient's Ebstein's anomaly (EA), a rare congenital heart disease of the tricuspid valve and right ventricle often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Our study identifies a novel, rare, and damaging coding variant c.709C > T (p.R237C) in the Kelch‐like family member 26 (KLHL26) gene with 10 affected out of 17 affected members using Sanger sequencing. Through structural modeling, we show that the KLHL26 variant may affect protein binding to Cullin3 (CUL3), a component of E3 ubiquitin ligase in the ubiquitin‐mediated protein degradation. Abstract Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC. Methods We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models. Results Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch‐like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC‐affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase. Conclusion In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin‐mediated protein degradation during cardiac development. Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC. We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models. Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch-like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC-affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase. In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin-mediated protein degradation during cardiac development. Patient's Ebstein's anomaly (EA), a rare congenital heart disease of the tricuspid valve and right ventricle often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Our study identifies a novel, rare, and damaging coding variant c.709C > T (p.R237C) in the Kelch‐like family member 26 (KLHL26) gene with 10 affected out of 17 affected members using Sanger sequencing. Through structural modeling, we show that the KLHL26 variant may affect protein binding to Cullin3 (CUL3), a component of E3 ubiquitin ligase in the ubiquitin‐mediated protein degradation. BackgroundEbstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC.MethodsWe performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models.ResultsExome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch-like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC-affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase.ConclusionIn this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin-mediated protein degradation during cardiac development. |
| Author | Frommelt, Michele A. Geddes, Gabrielle C. Lin, Chien‐Wei North, Lauren M. Dsouza, Nikita R. Tomita‐Mitchell, Aoy Mitchell, Michael E. Stamm, Karl D. Mahnke, Donna K. Lund, Michael Earing, Michael G. Willes, Richard Liang, Huan Ling Tripathi, Swarnendu Samudrala, Sai Suma K. Zimmermann, Michael T. |
| AuthorAffiliation | 6 Bioinformatics Research and Developmental Lab Genomic Sciences and Precision Medicine Center Medical College of Wisconsin Milwaukee WI USA 9 Division of Biostatistics Medical College of Wisconsin Milwaukee WI USA 4 Department of Pediatrics Children’s Hospital of Wisconsin Milwaukee WI USA 7 Clinical and Translational Science Institute Medical College of Wisconsin Milwaukee WI USA 10 Department of Biomedical Engineering Medical College of Wisconsin Milwaukee WI USA 3 Department of Surgery Division of Cardiothoracic Surgery Medical College of Wisconsin Milwaukee WI USA 5 Herma Heart Institute Children’s Hospital of Wisconsin Milwaukee WI USA 8 Department of Obstetrics and Gynecology Medical College of Wisconsin Milwaukee WI USA 1 Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee WI USA 2 Department of Otolaryngology and Communication Sciences Medical College of Wisconsin Milwaukee WI USA |
| AuthorAffiliation_xml | – name: 9 Division of Biostatistics Medical College of Wisconsin Milwaukee WI USA – name: 1 Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee WI USA – name: 2 Department of Otolaryngology and Communication Sciences Medical College of Wisconsin Milwaukee WI USA – name: 4 Department of Pediatrics Children’s Hospital of Wisconsin Milwaukee WI USA – name: 8 Department of Obstetrics and Gynecology Medical College of Wisconsin Milwaukee WI USA – name: 5 Herma Heart Institute Children’s Hospital of Wisconsin Milwaukee WI USA – name: 3 Department of Surgery Division of Cardiothoracic Surgery Medical College of Wisconsin Milwaukee WI USA – name: 6 Bioinformatics Research and Developmental Lab Genomic Sciences and Precision Medicine Center Medical College of Wisconsin Milwaukee WI USA – name: 10 Department of Biomedical Engineering Medical College of Wisconsin Milwaukee WI USA – name: 7 Clinical and Translational Science Institute Medical College of Wisconsin Milwaukee WI USA |
| Author_xml | – sequence: 1 givenname: Sai Suma K. orcidid: 0000-0002-3811-4666 surname: Samudrala fullname: Samudrala, Sai Suma K. organization: Medical College of Wisconsin – sequence: 2 givenname: Lauren M. surname: North fullname: North, Lauren M. organization: Medical College of Wisconsin – sequence: 3 givenname: Karl D. surname: Stamm fullname: Stamm, Karl D. organization: Medical College of Wisconsin – sequence: 4 givenname: Michael G. surname: Earing fullname: Earing, Michael G. organization: Children’s Hospital of Wisconsin – sequence: 5 givenname: Michele A. surname: Frommelt fullname: Frommelt, Michele A. organization: Children’s Hospital of Wisconsin – sequence: 6 givenname: Richard surname: Willes fullname: Willes, Richard organization: Children’s Hospital of Wisconsin – sequence: 7 givenname: Swarnendu surname: Tripathi fullname: Tripathi, Swarnendu organization: Medical College of Wisconsin – sequence: 8 givenname: Nikita R. surname: Dsouza fullname: Dsouza, Nikita R. organization: Medical College of Wisconsin – sequence: 9 givenname: Michael T. surname: Zimmermann fullname: Zimmermann, Michael T. organization: Medical College of Wisconsin – sequence: 10 givenname: Donna K. surname: Mahnke fullname: Mahnke, Donna K. organization: Medical College of Wisconsin – sequence: 11 givenname: Huan Ling surname: Liang fullname: Liang, Huan Ling organization: Medical College of Wisconsin – sequence: 12 givenname: Michael surname: Lund fullname: Lund, Michael organization: Medical College of Wisconsin – sequence: 13 givenname: Chien‐Wei surname: Lin fullname: Lin, Chien‐Wei organization: Medical College of Wisconsin – sequence: 14 givenname: Gabrielle C. surname: Geddes fullname: Geddes, Gabrielle C. organization: Children’s Hospital of Wisconsin – sequence: 15 givenname: Michael E. surname: Mitchell fullname: Mitchell, Michael E. organization: Children’s Hospital of Wisconsin – sequence: 16 givenname: Aoy orcidid: 0000-0002-7746-7528 surname: Tomita‐Mitchell fullname: Tomita‐Mitchell, Aoy email: amitchell@mcw.edu organization: Medical College of Wisconsin |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31985165$$D View this record in MEDLINE/PubMed |
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| DOI | 10.1002/mgg3.1152 |
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| Keywords | Kelch-like family member 26 left-ventricular noncompaction Ebstein's anomaly ubiquitin proteasome congenital heart defects |
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| Notes | Funding information This work was supported by National Heart, Lung, and Blood Institute 5T35HL072483‐32 (L.N) and 5T35HL072483‐34 (S.S.), the Wolfe Family Foundation, the Little Hearts for Life Foundation, the Medical College of Wisconsin's Department of Surgery, and the Children's Hospital of Wisconsin Research Institute. S.S. is a member of the Medical Scientist Training Program at MCW, which is partially supported by a training grant from National Institute of General Medical Sciences T32‐GM080202. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
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| PublicationDecade | 2020 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Bognor Regis – name: Hoboken |
| PublicationTitle | Molecular genetics & genomic medicine |
| PublicationTitleAlternate | Mol Genet Genomic Med |
| PublicationYear | 2020 |
| Publisher | John Wiley & Sons, Inc John Wiley and Sons Inc Wiley |
| Publisher_xml | – name: John Wiley & Sons, Inc – name: John Wiley and Sons Inc – name: Wiley |
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| Snippet | Background
Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left... Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular... BackgroundEbstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left... Patient's Ebstein's anomaly (EA), a rare congenital heart disease of the tricuspid valve and right ventricle often manifest with left ventricular noncompaction... Abstract Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with... |
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| SubjectTerms | Adult Age Binding Sites Biodegradation Cardiomyopathy Cardiovascular diseases Child Child, Preschool Children & youth Chromosome 19 Chromosomes congenital heart defects Coronary artery disease Cullin Proteins - metabolism Ebstein Anomaly - genetics Ebstein Anomaly - pathology Ebstein's anomaly Echocardiography Electrostatic properties Etiology Families & family life Female Genes Genetic Testing Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology Heart diseases Humans Infant, Newborn Kelch‐like family member 26 left‐ventricular noncompaction Loss of Function Mutation Male Middle Aged Original Pedigree Phenotypes Prediction models Premature birth Proteasomes Protein Binding Proteins Rheumatic heart disease Sequence analysis Transcription factors Tricuspid valve Ubiquitin ubiquitin proteasome Ubiquitin-protein ligase Ventricle |
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| Title | Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction |
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