{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:17Z","timestamp":1772160077146,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T00:00:00Z","timestamp":1707868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003100","name":"F\u00e9d\u00e9ration Fran\u00e7aise de Cardiologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003100","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic disease\u2010causing variants in the\n                    <jats:italic>ALPK3<\/jats:italic>\n                    gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown that carriers of heterozygous\n                    <jats:italic>ALPK3<\/jats:italic>\n                    null variants are at risk of developing hypertrophic cardiomyopathy (HCM) with an adult onset. Since the number of reported\n                    <jats:italic>ALPK3<\/jats:italic>\n                    patients is small, the mutational spectrum and clinical data are not fully described. In this multi\u2010centric study, we described the molecular and clinical spectrum of a large cohort of\n                    <jats:italic>ALPK3<\/jats:italic>\n                    patients. Genetic testing using targeted next generation sequencing was performed in 16\u2009183 cardiomyopathy index cases. Thirty\u2010six patients carried at least one null\n                    <jats:italic>ALPK3<\/jats:italic>\n                    variant. The five paediatric patients carried two\n                    <jats:italic>ALPK3<\/jats:italic>\n                    variants, all presented an HCM phenotype with severe outcomes (one transplantation, one heart failure and one cardiac arrest). The 31 adult patients carried heterozygous variants and the main phenotype was HCM (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200926\/31); including 15% (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20094) presented with an apical or a concentric form of hypertrophy. Reporting a large cohort of\n                    <jats:italic>ALPK3<\/jats:italic>\n                    patients, this collaborative work confirmed a strong association with HCM and suggesting his screening in the context of idiopathic HCM.\n                  <\/jats:p>","DOI":"10.1111\/cge.14505","type":"journal-article","created":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T00:35:49Z","timestamp":1707957349000},"page":"676-682","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Prevalence and phenotypes associated with\n                    <i>ALPK3<\/i>\n                    null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy"],"prefix":"10.1111","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7891-3385","authenticated-orcid":false,"given":"Flavie","family":"Ader","sequence":"first","affiliation":[{"name":"APHP\u2010Sorbonne Universit\u00e9\u2010DMU BioGem\u2010Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et cellulaire, Service de Biochimie M\u00e9tabolique, APHP\u2010H\u00f4pital Universitaire Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"},{"name":"INSERM UMRS1166 \u00c9quipe 1, ICAN Institute (institut de cardiom\u00e9tabolisme et nutrition)  Paris France"},{"name":"Universit\u00e9 Paris Cit\u00e9, UFR de Pharmacie  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Jedraszak","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Constitutionnelle, CHU d'Amiens  Amiens France"},{"name":"UR4666 HEMATIM, Universit\u00e9 de Picardie Jules Verne  Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3571-003X","authenticated-orcid":false,"given":"Alexandre","family":"Janin","sequence":"additional","affiliation":[{"name":"UF Pathologies Cardiaques H\u00e9r\u00e9ditaires, Service de Biochimie, Hospices Civils de Lyon  Bron France"},{"name":"Universit\u00e9 de Lyon  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7104-8496","authenticated-orcid":false,"given":"Clarisse","family":"Billon","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares, Groupe Hospitalier Universitaire Centre, H\u00f4pital Europ\u00e9en Georges Pompidou, APHP  Paris France"},{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, PARCC U970  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie Roux","family":"Buisson","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrien","family":"Bloch","sequence":"additional","affiliation":[{"name":"APHP\u2010Sorbonne Universit\u00e9\u2010DMU BioGem\u2010Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et cellulaire, Service de Biochimie M\u00e9tabolique, APHP\u2010H\u00f4pital Universitaire Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meriem","family":"Bensalah","sequence":"additional","affiliation":[{"name":"APHP\u2010Sorbonne Universit\u00e9\u2010DMU BioGem\u2010Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et cellulaire, Service de Biochimie M\u00e9tabolique, APHP\u2010H\u00f4pital Universitaire Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anachiara","family":"De Sandre\u2010Giovannoli","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, Plateforme M2GM \u2013 Biog\u00e9nop\u00f4le, H\u00f4pital La Timone, APHM  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Goudal","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, CHU de Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Marsili","sequence":"additional","affiliation":[{"name":"Univ. Lille, CHU Lille, Service de G\u00e9netique Clinique  Lille France"},{"name":"Department of Genetics, University Medical Centre Utrecht Utrecht University  Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Cazeneuve","sequence":"additional","affiliation":[{"name":"UF Pathologies Cardiaques H\u00e9r\u00e9ditaires, Service de Biochimie, Hospices Civils de Lyon  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies cardiaques h\u00e9r\u00e9ditaires\u2010APHP\u2010Sorbonne Universit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6127-0694","authenticated-orcid":false,"given":"Gilles","family":"Millat","sequence":"additional","affiliation":[{"name":"UF Pathologies Cardiaques H\u00e9r\u00e9ditaires, Service de Biochimie, Hospices Civils de Lyon  Bron France"},{"name":"Universit\u00e9 de Lyon  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2390-3005","authenticated-orcid":false,"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"APHP\u2010Sorbonne Universit\u00e9\u2010DMU BioGem\u2010Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et cellulaire, Service de Biochimie M\u00e9tabolique, APHP\u2010H\u00f4pital Universitaire Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"},{"name":"INSERM UMRS1166 \u00c9quipe 1, ICAN Institute (institut de cardiom\u00e9tabolisme et nutrition)  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Cardiogen French Network of Molecular Biologists","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.10.093"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.122.059688"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s44161-023-00219-9"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2020.03.023"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehab424"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/HCG.0000000000000067"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14505","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T21:36:38Z","timestamp":1714599398000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,14]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1111\/cge.14505"],"URL":"https:\/\/doi.org\/10.1111\/cge.14505","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14505\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14505\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14505\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14505\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14505\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14505\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14505\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,14]]},"assertion":[{"value":"2023-12-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}