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  Mutations in the Sarcomere Protein Gene MYH7 in Ebstein's Anomaly

Postma, A. V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M. J., Bauer, U., Pickardt, T., Sperling, S. R., Berger, F., Moorman, A. F., Mulder, B. J., Thierfelder, L., Keavney, B., Goodship, J., & Klaassen, S. (2011). Mutations in the Sarcomere Protein Gene MYH7 in Ebstein's Anomaly. Circulation: Cardiovascular Genetics, 4(1), 43-50. doi:10.1161/CIRCGENETICS.110.957985.

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アイテムのパーマリンク: https://hdl.handle.net/11858/00-001M-0000-0010-77C9-5 版のパーマリンク: https://hdl.handle.net/11858/00-001M-0000-0010-77CA-3
資料種別: 学術論文
その他のタイトル : Circ Cardiovasc Genet

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 作成者:
Postma, A. V., 著者
van Engelen, K., 著者
van de Meerakker, J., 著者
Rahman, T., 著者
Probst, S., 著者
Baars, M. J., 著者
Bauer, U., 著者
Pickardt, T., 著者
Sperling, S. R.1, 著者
Berger, F., 著者
Moorman, A. F., 著者
Mulder, B. J., 著者
Thierfelder, L., 著者
Keavney, B., 著者
Goodship, J., 著者
Klaassen, S., 著者
所属:
1Max Planck Society, ou_persistent13              

内容説明

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キーワード: cardiomyopathy; congenital; genetics; heart defects
 要旨: BACKGROUND: -Ebstein's anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein's anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding beta-myosin heavy chain has been reported; here we have screened for MYH7 mutations in a cohort of probands with Ebstein's anomaly in a large population-based study. METHODS AND RESULTS: -Mutational analysis in a cohort of 141 unrelated probands with Ebstein's anomaly was performed by next generation sequencing and direct DNA sequencing of MYH7. Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found, 5 were novel and 2 were known to cause hypertrophic cardiomyopathy (HCM). All mutations except for one 3-bp deletion were missense mutations, one was a de novo change. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein's anomaly (p<0.0001). LVNC segregated with the MYH7 mutation in the pedigrees of three of the probands, one of which also included another individual with Ebstein's anomaly. CONCLUSIONS: -Ebstein's anomaly is a congenital heart malformation that is associated with mutations in MYH7. MYH7 mutations are predominantly found in Ebstein's anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients.

資料詳細

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言語: eng - English
 日付: 2011-02-01
 出版の状態: 出版
 ページ: -
 出版情報: -
 目次: -
 査読: -
 識別子（DOI, ISBNなど）: eDoc: 554599
URI: http://circgenetics.ahajournals.org/content/early/2010/12/02/CIRCGENETICS.110.957985 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21127202
DOI: 10.1161/CIRCGENETICS.110.957985
 学位: -

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出版物 1

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出版物名: Circulation: Cardiovascular Genetics
  出版物の別名 : Circ Cardiovasc Genet
種別: 学術雑誌
 著者・編者:
所属:
出版社, 出版地: -
ページ: - 巻号: 4 (1) 通巻号: - 開始・終了ページ: 43 - 50 識別子（ISBN, ISSN, DOIなど）: ISSN: 1942-3268