Family dilated cardiomyopathy case associated with mutation in the splicing factor gene RBM20
https://doi.org/ 10.25557/2073-7998.2018.11.48-52
Abstract
The article presents a family with cases of dilated cardiomyopathy (DCM) registered for two generations. The study aim was to determine the genetic cause of the disease development. Materials: DNA samples obtained from the buccal epithelium of the proband and family members. Methods: clinical and laboratory methods for diagnosis establishing and verifying, NGS and direct sequencing for the definition of the pathogenic variant leading to the cardiomyopathy. Results: a heterozygous mutation c.1901G> A was identified in the gene of the alternative splicing factor RBM20 (10q25.2), leading to the replacement of the highly conserved arginine residue by glutamine in the RS domain of the protein - p.R634Q. Its carriage co-segregated with the DCM phenotype in family members. Mutations in this gene lead to the alternative splicing disruption and the formation of atypical mRNA variants. Published articles about the splicing regulation of genes expressed in the cardiac muscle by RBM20 are reviewed. Conclusion: variant c.1901G>A in the RBM20 gene should be considered as pathogenic. The molecular genetic analysis specified the diagnosis of the proband and her son - DCM 1DD.
About the Authors
L. N. Sivitskaya
Minsk, Belarus
Russian Federation
Russian Federation
T. G. Vaikhanskaya
Minsk, Belarus
Russian Federation
Russian Federation
A. D. Liaudanski
Minsk, Belarus
Russian Federation
Russian Federation
T. V. Kurushka
Minsk, Belarus
Russian Federation
Russian Federation
N. G. Danilenko
Minsk, Belarus
Russian Federation
Russian Federation
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Review
For citations:
Sivitskaya L.N., Vaikhanskaya T.G., Liaudanski A.D., Kurushka T.V., Danilenko N.G. Family dilated cardiomyopathy case associated with mutation in the splicing factor gene RBM20. Medical Genetics. 2018;17(11):48-52. (In Russ.) https://doi.org/ 10.25557/2073-7998.2018.11.48-52
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