uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
Show others and affiliations
2013 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 132, no 11, 1245-1252 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2013. Vol. 132, no 11, 1245-1252 p.
National Category
Medical Genetics
URN: urn:nbn:se:uu:diva-208530DOI: 10.1007/s00439-013-1323-2ISI: 000325706500005PubMedID: 23812740OAI: oai:DiVA.org:uu-208530DiVA: diva2:652935
Available from: 2013-10-02 Created: 2013-10-02 Last updated: 2013-11-13Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Baskin, Berivan
By organisation
Medical Genetics
In the same journal
Human Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 187 hits
ReferencesLink to record
Permanent link

Direct link