title: Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.
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.
  
  
  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.
authors: 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.
authors: Jacoba J
authors: JJ
authors: Louw
authors: Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.
authors: Anniek
authors: A
authors: Corveleyn
authors: Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.
authors: Yaojuan
authors: Y
authors: Jia
authors: Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.
authors: Sajid
authors: S
authors: Iqbal
authors: Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium.
authors: Derize
authors: D
authors: Boshoff
authors: Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium.
authors: Marc
authors: M
authors: Gewillig
authors: Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.
authors: Hilde
authors: H
authors: Peeters
authors: Department of Anatomical Pathology, University Hospitals Leuven, Belgium.
authors: Philippe
authors: P
authors: Moerman
authors: Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.
authors: Koenraad
authors: K
authors: Devriendt
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D018797:Cell Cycle Proteins; D003241:Consanguinity; D059472:Exome; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D035781:Siblings; D014463:Ultrasonography
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins
keywords: ALMS1; Alström syndrome; Cardiomyopathy; Ciliopathy; Exome sequencing