Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

• Published in: American journal of human genetics Vol. 82; no. 4; pp. 809 - 821
• Main Authors: Merner, Nancy D., Hodgkinson, Kathy A., Haywood, Annika F.M., Connors, Sean, French, Vanessa M., Drenckhahn, Jörg-Detlef, Kupprion, Christine, Ramadanova, Kalina, Thierfelder, Ludwig, McKenna, William, Gallagher, Barry, Morris-Larkin, Lynn, Bassett, Anne S., Parfrey, Patrick S., Young, Terry-Lynn
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.04.2008; University of Chicago Press; Cell Press; American Society of Human Genetics
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Arrhythmogenic Right Ventricular Dysplasia - complications; Arrhythmogenic Right Ventricular Dysplasia - genetics; Arrhythmogenic Right Ventricular Dysplasia - pathology; Biological and medical sciences; Cardiac dysrhythmias; Cardiology; Cardiology. Vascular system; Cardiovascular disease; Child; Chromosomes, Human, Pair 3 - genetics; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic Testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Heart; Heart Failure - etiology; Heart Failure - genetics; Heart Failure - pathology; Humans; Life Expectancy; Male; Medical genetics; Medical sciences; Membrane Proteins - chemistry; Membrane Proteins - genetics; Membrane Proteins - metabolism; Middle Aged; Molecular and cellular biology; Molecular Sequence Data; Mutation; Mutation, Missense; Myocardium - pathology; Pedigree; Penetrance; Physical Chromosome Mapping; Protein Conformation; Sex Factors; Human; Missense mutation; Arrhythmia; Gene; Arrhythmogenic right ventricular dysplasia; Heart disease; Genetics; Cardiovascular disease; Genetic disease

Autosomal-dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) causes sudden cardiac death and is characterized by clinical and genetic heterogeneity. Fifteen unrelated ARVC families with a disease-associated haplotype on chromosome 3p (ARVD5) were ascertained from a genetical...