Jacoba J Louw1, Anniek Corveleyn2, Yaojuan Jia2, Sajid Iqbal2, Derize Boshoff3, Marc Gewillig3, Hilde Peeters2, Philippe Moerman4, Koenraad Devriendt2. 1. Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium; Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium. Electronic address: jacoba.louw@uzleuven.be. 2. Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium. 3. Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium. 4. Department of Anatomical Pathology, University Hospitals Leuven, Belgium.
Abstract
BACKGROUND: Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically. METHODS AND RESULTS: Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype. CONCLUSIONS: Alström syndrome is characterized by a typically transient dilating cardiomyopathy in infancy, suggesting that mitogenic cardiomyopathy represents the extreme phenotype, resulting in demise before the other clinical symptoms become evident. This observation further illustrates the role of ALMS1 and cell cycle regulation.
BACKGROUND: Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically. METHODS AND RESULTS: Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype. CONCLUSIONS: Alström syndrome is characterized by a typically transient dilating cardiomyopathy in infancy, suggesting that mitogenic cardiomyopathy represents the extreme phenotype, resulting in demise before the other clinical symptoms become evident. This observation further illustrates the role of ALMS1 and cell cycle regulation.
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