{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:22:38Z","timestamp":1776831758088,"version":"3.51.2"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Genetic variants in the <jats:italic>ABCC9<\/jats:italic> gene, encoding the SUR2 auxiliary subunit from K<jats:sub>ATP<\/jats:sub> channels, were previously linked with various inherited diseases. This wide range of congenital disorders includes multisystem and cardiovascular pathologies. The gain-of-function mutations result in Cantu syndrome, acromegaloid facial appearance, hypertrichosis, and acromegaloid facial features. The loss-of-function mutations in the <jats:italic>ABCC9<\/jats:italic> gene were associated with the Brugada syndrome, early repolarization syndrome, and dilated cardiomyopathy. Here, we reported a patient with a loss-of-function variant in the <jats:italic>ABCC9<\/jats:italic> gene, identified by target high-throughput sequencing. The female proband presented with several episodes of ventricular fibrillation and hypokalemia upon emotional stress. This case sheds light on the consequences of K<jats:sub>ATP<\/jats:sub> channel dysfunction in the cardiovascular system and underlines the complexity of the clinical presentation of <jats:italic>ABCC9<\/jats:italic>-related diseases.<\/jats:p>","DOI":"10.3389\/fgene.2022.718853","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:23:40Z","timestamp":1649856220000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation"],"prefix":"10.3389","volume":"13","author":[{"given":"Anastasia","family":"Zaytseva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatyana","family":"Tulintseva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulya","family":"Fomicheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Mikhailova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Treshkur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kostareva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1126\/science.7716547","article-title":"Cloning of the \u03b2 Cell High-Affinity Sulfonylurea Receptor: a Regulator of Insulin Secretion","volume":"268","author":"Aguilar-Bryan","year":"1995","journal-title":"Science"},{"key":"B2","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1016\/j.hrthm.2011.10.035","article-title":"Molecular Genetic and Functional Association of Brugada and Early Repolarization Syndromes with S422L Missense Mutation in KCNJ8","volume":"9","author":"Barajas-Mart\u00ednez","year":"2012","journal-title":"Heart Rhythm"},{"key":"B3","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1038\/ng1329","article-title":"ABCC9 Mutations Identified in Human Dilated Cardiomyopathy Disrupt Catalytic KATP Channel Gating","volume":"36","author":"Bienengraeber","year":"2004","journal-title":"Nat. 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