ArticleGenes2022
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy.
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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12 authors at 6 institutions in 1 country.
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Abstract
introductionArrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes. Knowledge of the phenotypic expression of each of these genes will help in both diagnosis and prognosis. The objective of this study is to describe the genotype-phenotype association of an unknown
methodsClinical and genetic study of a big family carrying the p.Tyr168* variant in the
resultsTwenty-two patients (proband and relatives) were evaluated. This variant presented with high arrhythmic load at an early age, but without evidence of structural heart disease after 20 years of follow-up, with low risk in predictive scores. We demonstrate evidence of its pathogenicity.
conclusionsThe p.Tyr168* variant in the
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