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

Näytä kaikki kuvailutiedot



Pysyväisosoite

http://hdl.handle.net/10138/213699

Lähdeviite

BMC Medical Genetics. 2017 Aug 17;18(1):86

Julkaisun nimi: Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2
Tekijä: Qadri, Sami; Anttonen, Olli; Viikilä, Juho; Seppälä, Eija H.; Myllykangas, Samuel; Alastalo, Tero-Pekka; Holmström, Miia; Heliö, Tiina; Koskenvuo, Juha W.
Julkaisija: BioMed Central
Päiväys: 2017-08-17
URI: http://hdl.handle.net/10138/213699
Tiivistelmä: 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.
Avainsanat: Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathies
Desmosomes
DSG2
Mutation
Case series


Tiedostot

Latausmäärä yhteensä: Ladataan...

Tiedosto(t) Koko Formaatti Näytä
12881_2017_Article_442.pdf 752.6KB PDF Avaa tiedosto

Viite kuuluu kokoelmiin:

Näytä kaikki kuvailutiedot