Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

Eyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas-Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xose S. Puente, Doron M. Behar, Carlos Lopez-Otin

פרסום מחקרי: פרסום בכתב עתמאמרביקורת עמיתים

תקציר

In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied whole-exome sequencing to members of a non-consanguineous family affected by a previously unreported congenital dilated cardiomyopathy syndrome necessitating early-onset heart transplant. Exome analysis identified compound heterozygous variants in the FLNC gene. Histological analysis of the cardiac muscle demonstrated marked sarcomeric and myofibrillar abnormalities, and immunohistochemical staining demonstrated the presence of Filamin C aggregates in cardiac myocytes. We conclude that biallelic variants in FLNC can cause congenital dilated cardiomyopathy. As the associated clinical features of affected patients are mild, and can be easily overlooked, testing for FLNC should be considered in children presenting with dilated cardiomyopathy.

שפה מקוריתאנגלית
עמודים (מ-עד)1792-1796
מספר עמודים5
כתב עתEuropean Journal of Human Genetics
כרך24
מספר גיליון12
מזהי עצם דיגיטלי (DOIs)
סטטוס פרסוםפורסם - 1 דצמ׳ 2016

ASJC Scopus subject areas

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טביעת אצבע

להלן מוצגים תחומי המחקר של הפרסום 'Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C'. יחד הם יוצרים טביעת אצבע ייחודית.

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