Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.

doi:10.3390/ijms22073786

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Article

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.

International journal of molecular sciences - 6 Apr 2021

Brodehl Andreas, Meshkov Alexey, Myasnikov Roman, Kiseleva Anna, Kulikova Olga, Klauke Bärbel, Sotnikova Evgeniia, Stanasiuk Caroline, Divashuk Mikhail, Pohl Greta Marie, Kudryavtseva Maria, Klingel Karin, Gerull Brenda, Zharikova Anastasia, Gummert Jan, Koretskiy Sergey, Schubert Stephan, Mershina Elena, Gärtner Anna, Pilus Polina, Laser Kai Thorsten, Sinitsyn Valentin, Boytsov Sergey, Drapkina Oxana, Milting Hendrik

Abstract excerpt

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach...

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PMID: 33917638
DOI: 10.3390/ijms22073786
PMCID: PMC8038858

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