{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:13:30Z","timestamp":1791026010899,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T00:00:00Z","timestamp":1557446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004351","name":"Sultan Qaboos University","doi-asserted-by":"publisher","award":["SR\/MED\/GENT\/16\/01"],"award-info":[{"award-number":["SR\/MED\/GENT\/16\/01"]}],"id":[{"id":"10.13039\/501100004351","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss\u2010of\u2010function pathogenic variants in alpha\u2010kinase 3 (<jats:italic>ALPK3<\/jats:italic>) were implicated in causing early\u2010onset pediatric cardiomyopathy (cardiomyopathy, familial hypertrophic 27; OMIM 618052). To date, eight patients, all presented during early childhood, were reported with biallelic <jats:italic>ALPK3<\/jats:italic> pathogenic variants. We describe the molecular and clinical phenotype characterization of familial cardiomyopathy on one family with six affected individuals. We identified homozygosity for an <jats:italic>ALPK3<\/jats:italic> deleterious sequence variant (NM_020778.4:c.639G&gt;A:p.Trp213*) in all the affected individuals. They presented with either dilated cardiomyopathy that progressed to hypertrophic cardiomyopathy (HCM) or HCM with left ventricular noncompaction. The age of presentation in our cohort extends between infancy to the fourth decade. The phenotypic severity decreases with the progression of age.<\/jats:p>","DOI":"10.1002\/ajmg.a.61176","type":"journal-article","created":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T07:36:06Z","timestamp":1557473766000},"page":"1235-1240","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Phenotypic spectrum of <i>ALPK3<\/i>\u2010related cardiomyopathy"],"prefix":"10.1002","volume":"179","author":[{"given":"Khalfan","family":"Al Senaidi","sequence":"first","affiliation":[{"name":"Department of Child Health College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niranjan","family":"Joshi","sequence":"additional","affiliation":[{"name":"Department of Child Health College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Al\u2010Nabhani","sequence":"additional","affiliation":[{"name":"Department of Genetics College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghalia","family":"Al\u2010Kasbi","sequence":"additional","affiliation":[{"name":"Department of Genetics College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Al Farqani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Royal Hospital, Ministry of Health  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al\u2010Thihli","sequence":"additional","affiliation":[{"name":"Department of Genetics College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"},{"name":"Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1404-8887","authenticated-orcid":false,"given":"Almundher","family":"Al\u2010Maawali","sequence":"additional","affiliation":[{"name":"Department of Genetics College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"},{"name":"Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.10.093"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"a001859","DOI":"10.1101\/mcs.a001859","article-title":"ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features","volume":"3","author":"\u00c7a\u011flayan A. 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