{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:49:57Z","timestamp":1788544197131,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T00:00:00Z","timestamp":1694476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Childhood\u2010onset cardiomyopathy is a genetically heterogeneous group of conditions with several genes implicated. Recently, biallelic loss\u2010of\u2010function variants in\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    have been reported in association with a syndromic form of dilated cardiomyopathy (DCM). In addition, affected children manifest skin and hair abnormalities, cleft lip and palate (CLP), and eye findings. Here, we delineate the condition further by describing the phenotype associated with a homozygous frameshift variant (p.Arg330 ProfsTer76) in\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    detected in two sibships in a consanguineous family with six affected children. The index case had DCM and wooly hair, two of his siblings had DCM and CLP while three cousins had, in addition, glaucoma. Global developmental delay was observed in one child. All the children, except one, died during early childhood. Whole exome sequencing and whole genome sequencing did not reveal any other plausible variant. We provide further evidence that implicates\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    in a variable syndromic form of severe childhood\u2010onset DCM and suggests expanding the spectrum of this condition to include glaucoma. Given the variability of the phenotype associated with\n                    <jats:italic>PPP1R13<\/jats:italic>\n                    \u2010related DCM, a thorough evaluation of each case is highly recommended even in the presence of an apparently isolated DCM.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63402","type":"journal-article","created":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T07:33:42Z","timestamp":1694504022000},"page":"59-63","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Variable phenotype of a null\n                    <i>PPP1R13L<\/i>\n                    allele in children with dilated cardiomyopathy"],"prefix":"10.1002","volume":"194","author":[{"given":"Sahar","family":"Tulbah","sequence":"first","affiliation":[{"name":"Cardiovascular Genetics Program, Department of Translational Genomics Center for Genomic Medicine  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadiah","family":"Alruwaili","sequence":"additional","affiliation":[{"name":"Heart Center King Faisal Specialist Hospital &amp; Research Centre (KFSH&amp;RC)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9668-7809","authenticated-orcid":false,"given":"Amal","family":"Alhashem","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Prince Sultan Medical Military City  Riyadh Saudi Arabia"},{"name":"College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3598-7410","authenticated-orcid":false,"given":"Arwa","family":"Aljohany","sequence":"additional","affiliation":[{"name":"King Khalid University Hospital and College of Medicine King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faten","family":"Alhadeq","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Program, Department of Translational Genomics Center for Genomic Medicine  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimpna C. Albert","family":"Brotons","sequence":"additional","affiliation":[{"name":"Heart Center King Faisal Specialist Hospital &amp; Research Centre (KFSH&amp;RC)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Alwadai","sequence":"additional","affiliation":[{"name":"Heart Failure and Transplant Program Prince Sultan Cardiac Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7173-2044","authenticated-orcid":false,"given":"Zuhair N.","family":"Al\u2010Hassnan","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Program, Department of Translational Genomics Center for Genomic Medicine  Riyadh Saudi Arabia"},{"name":"College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.002969"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41418-017-0039-6"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201606523"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.9"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi063"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2012.01.017"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd4030011"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13812"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-13-76"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2018.08.2171"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63402","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T02:33:45Z","timestamp":1706495625000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,12]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63402"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63402","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,12]]},"assertion":[{"value":"2023-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}