| Autor: |
Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien‐Wei Lin, Gabrielle C. Geddes, Michael E. Mitchell, Aoy Tomita‐Mitchell |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.1152 |
| Popis: |
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 |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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