Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

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dc.contributor.author Qadri, Sami
dc.contributor.author Anttonen, Olli
dc.contributor.author Viikilä, Juho
dc.contributor.author Seppälä, Eija H.
dc.contributor.author Myllykangas, Samuel
dc.contributor.author Alastalo, Tero-Pekka
dc.contributor.author Holmström, Miia
dc.contributor.author Heliö, Tiina
dc.contributor.author Koskenvuo, Juha W.
dc.date.accessioned 2017-08-20T03:51:59Z
dc.date.available 2017-08-20T03:51:59Z
dc.date.issued 2017-08-17
dc.identifier.citation BMC Medical Genetics. 2017 Aug 17;18(1):86
dc.identifier.uri http://hdl.handle.net/10138/213699
dc.description.abstract Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. Case presentation We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c.1003A > G, p.(Thr335Ala) was discovered in the index patients using next-generation sequencing panels. The presence of this variant in probands’ siblings and children was studied by Sanger sequencing. Five homozygotes and nine heterozygotes were found with the mutation. Participants were evaluated clinically where possible, and available medical records were obtained. All patients homozygous for the variant fulfilled the current diagnostic criteria for ARVC, whereas none of the heterozygous subjects had symptoms suggestive of ARVC or other cardiomyopathies. Conclusions The homozygous DSG2 variant c.1003A > G co-segregated with ARVC, indicating autosomal recessive inheritance and complete penetrance. More research is needed to establish a detailed understanding of the relevance of rare variants in ARVC associated genes, which is essential for informative genetic counseling and rational family member testing.
dc.publisher BioMed Central
dc.subject Arrhythmogenic right ventricular cardiomyopathy
dc.subject Cardiomyopathies
dc.subject Desmosomes
dc.subject DSG2
dc.subject Mutation
dc.subject Case series
dc.title Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2
dc.date.updated 2017-08-20T03:51:59Z
dc.language.rfc3066 en
dc.rights.holder The Author(s).
dc.type.uri http://purl.org/eprint/entityType/ScholarlyWork
dc.type.uri http://purl.org/eprint/entityType/Expression
dc.type.uri http://purl.org/eprint/type/JournalArticle

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