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TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
Ist Teil von
Human genetics, 2013-11, Vol.132 (11), p.1245-1252
Ort / Verlag
Berlin/Heidelberg: Springer Berlin Heidelberg
Erscheinungsjahr
2013
Link zum Volltext
Quelle
SpringerNature Journals
Beschreibungen/Notizen
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (
TMEM43
) gene, has been genetically identified to cause ARVC type 5 in a founder population from Newfoundland. It is unclear whether this mutation occurs in other populations outside of this founder population or if other variants of
TMEM43
are associated with ARVC disease. We sought to identify non-Newfoundland individuals with
TMEM43
variants among patient samples sent for genetic assessment for possible ARVC. Of 195 unrelated individuals with suspected ARVC, mutation of desmosomal proteins was seen in 28 and the p.S358L TMEM43 mutation in six. We identified a de novo p.S358L mutation in a non-Newfoundland patient and five separate rare
TMEM43
(four novel) sequence variants in non-Newfoundland patients, each occurring in an evolutionarily conserved amino acid.
TMEM43
mutations occur outside of the founder population of the island of Newfoundland where it was originally described.
TMEM43
sequencing should be incorporated into clinical genetic testing for ARVC patients.