Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

• Published in: PLoS genetics Vol. 6; no. 3; p. e1000874
• Main Authors: Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.03.2010; Public Library of Science (PLoS)
• Subjects: Adipose Tissue - pathology; Adolescent; Arrhythmias, Cardiac - complications; Arrhythmias, Cardiac - genetics; Base Sequence; Biosynthesis; Cardiac arrhythmia; Cardiovascular Disorders/Arrhythmias, Electrophysiology, and Pacing; Caveolae - pathology; Caveolae - ultrastructure; Cell Biology/Cell Signaling; Cell Biology/Gene Expression; Child; Development and progression; DNA Mutational Analysis; Family; Fatal Outcome; Female; Fibroblasts - pathology; Fibroblasts - ultrastructure; Gene mutations; Genes; Genetic aspects; Genetics and Genomics/Gene Function; Genetics and Genomics/Genetics of Disease; Genetics and Genomics/Medical Genetics; Homozygote; Humans; Identification and classification; Infant, Newborn; Lipodystrophy; Lipodystrophy, Congenital Generalized - complications; Lipodystrophy, Congenital Generalized - genetics; Lipodystrophy, Congenital Generalized - pathology; Long QT syndrome; Long QT Syndrome - complications; Long QT Syndrome - genetics; Male; Microscopy; Molecular Sequence Data; Muscles - pathology; Mutation - genetics; Oman; Patients; Pedigree; Phenotype; Proteins; RNA-Binding Proteins - genetics; Oman; Germany

We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycard...