{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T01:18:48Z","timestamp":1760231928490,"version":"build-2065373602"},"reference-count":35,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T00:00:00Z","timestamp":1651017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Introduction: Arrhythmogenic 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\u2013phenotype association of an unknown PKP2 gene variant in a family diagnosed with ACM. Methods: Clinical and genetic study of a big family carrying the p.Tyr168* variant in the PKP2 gene, in order to demonstrate pathogenicity of this variant, causing ACM. Results: Twenty-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. Conclusions: The p.Tyr168* variant in the PKP2 gene causes ACM with a high arrhythmic load and with an absence of structural heart disease. This fact emphasizes the value of knowing the phenotypic expression of each variant.<\/jats:p>","DOI":"10.3390\/genes13050782","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T13:40:57Z","timestamp":1651066857000},"page":"782","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0657-0306","authenticated-orcid":false,"given":"Fiama","family":"Caimi-Martinez","sequence":"first","affiliation":[{"name":"Inherited Heart Disease Unit, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0950-4603","authenticated-orcid":false,"given":"Guido","family":"Antoniutti","sequence":"additional","affiliation":[{"name":"Inherited Heart Disease Unit, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocio","family":"Blanco","sequence":"additional","affiliation":[{"name":"Inherited Heart Disease Unit, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardo","family":"Garc\u00eda de la Villa","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital de Manacor, 07500 Manacor, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelson","family":"Alvarenga","sequence":"additional","affiliation":[{"name":"Cardiology Department, Cl\u00ednica Quir\u00f3n Palmaplanas, 07010 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Govea-Callizo","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8739-6081","authenticated-orcid":false,"given":"Laura","family":"Torres-Juan","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9374-1219","authenticated-orcid":false,"given":"Dami\u00e1n","family":"Heine-Su\u00f1er","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Rosell-Andreo","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Cr\u00e9mer","family":"Luengos","sequence":"additional","affiliation":[{"name":"Inherited Heart Disease Unit, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Alvarez-Rubio","sequence":"additional","affiliation":[{"name":"Inherited Heart Disease Unit, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9222-325X","authenticated-orcid":false,"given":"Tom\u00e1s","family":"Ripoll-Vera","sequence":"additional","affiliation":[{"name":"Inherited Heart Disease Unit, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"},{"name":"CIBER of Physiopathology of Obesity and Nutrition, 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1136\/heartjnl-2021-319113","article-title":"Arrhythmogenic right ventricular cardiomyopathy: A focused update on diagnosis and risk 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