{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T14:59:09Z","timestamp":1773413949033,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    BCARD syndrome is a rare autosomal recessive connective tissue disorder characterized by bone abnormalities, cataract, risk of arterial rupture due to vascular aneurisms or dissections, and sensorineural deafness. BCARD, linked to biallelic pathogenic variants in the\n                    <jats:italic>PLOD3<\/jats:italic>\n                    gene, was characterized in 10 cases across six reports. Here we present an 11\u2010year\u2010old female patient whose phenotype, alongside the clinical features specific to BCARD syndrome, also exhibited vesico\u2010ureteral reflux, intestinal anomaly, minor cardiac anomalies, focal epilepsy, and brain abnormalities, including polymicrogyria and heterotopia. Whole\u2010exome sequencing revealed two novel nucleotide variants (c.335A&gt;G and c.2158G&gt;T) in the\n                    <jats:italic>PLOD3<\/jats:italic>\n                    gene. The first variant functions as a cryptic splice site variant, and RNA analysis confirmed that it causes a 4\u2009bp truncation of exon 3. This truncation induces a frameshift, resulting in the formation of a premature termination codon (p.(Asp112AlafsTer4)). The second variant, a nonsense mutation located in the final exon, leads to the truncation of a functionally critical protein domain. This case expands our understanding of BCARD syndrome variability, aiding in earlier detection of skeletal pathology, brain, ocular, vascular complications, and intestinal, ureteral, cardiac abnormalities.\n                  <\/jats:p>","DOI":"10.1111\/cge.14756","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T01:05:33Z","timestamp":1745802333000},"page":"474-478","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Expanding the Clinical Spectrum of\n                    <scp>BCARD<\/scp>\n                    Syndrome Caused by Novel Biallelic Variants in the\n                    <scp>\n                      <i>PLOD3<\/i>\n                    <\/scp>\n                    Gene"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5436-836X","authenticated-orcid":false,"given":"Evgeniya","family":"Melnik","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2672-6294","authenticated-orcid":false,"given":"Tatiana","family":"Markova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0037-0528","authenticated-orcid":false,"given":"Yana","family":"Fedotova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6962-903X","authenticated-orcid":false,"given":"Eugene","family":"Tatarskiy","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0649-5062","authenticated-orcid":false,"given":"Viktoria","family":"Zabnenkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7765-3307","authenticated-orcid":false,"given":"Vitaly","family":"Kadyshev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7651-8485","authenticated-orcid":false,"given":"Vladimir","family":"Kenis","sequence":"additional","affiliation":[{"name":"H. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery of the Ministry of Health of the Russian Federation  Saint Petersburg Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9572-4647","authenticated-orcid":false,"given":"Galina","family":"Buyanova","sequence":"additional","affiliation":[{"name":"Chelyabinsk Regional Children's Clinical Hospital  Chelyabinsk Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-3438","authenticated-orcid":false,"given":"Mikhail","family":"Skoblov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5602-2805","authenticated-orcid":false,"given":"Elena","family":"Dadali","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.004"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.309096"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201005631\u20105"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102019\u2010106019"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100138\u2010x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.11.006"},{"issue":"2","key":"e_1_2_9_8_1","first-page":"70","article-title":"A Second Family Carrying a Mutation of the PLOD3 Identified by Whole Exome Sequencing: A New Subtype of EDS?","volume":"21","author":"Steichen\u2010Gersdorf E.","year":"2013","journal-title":"European Journal of Human Genetics"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ped4.12328"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.70459"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad383"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1261877"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T02:47:47Z","timestamp":1756867667000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,27]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1111\/cge.14756"],"URL":"https:\/\/doi.org\/10.1111\/cge.14756","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14756\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14756\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,27]]},"assertion":[{"value":"2025-02-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}