{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:42Z","timestamp":1775804802778,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","award":["PID2020\u2010116263RB\u2010I00"],"award-info":[{"award-number":["PID2020\u2010116263RB\u2010I00"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","award":["PID2023\u2010150101OB\u2010I00"],"award-info":[{"award-number":["PID2023\u2010150101OB\u2010I00"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020636","name":"Ministerio de Educaci\u00f3n y Formaci\u00f3n Profesional","doi-asserted-by":"publisher","award":["PRE2021\u2010098874"],"award-info":[{"award-number":["PRE2021\u2010098874"]}],"id":[{"id":"10.13039\/501100020636","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spondyloepiphyseal dysplasia, Kondo\u2010Fu (SEDKF) type is a rare skeletal dysplasia caused by biallelic variants in\n                    <jats:italic>MBTPS1<\/jats:italic>\n                    . To date, only seven SEDKF cases have been reported in the literature. Here, we report the eighth, a 20\u2010year\u2010old male presenting with severe disproportionate short stature, spondyloepiphyseal dysplasia, and the previously unreported feature of cutis laxa, which led to the clinical suspicion of geroderma osteodysplasica. Whole exome sequencing identified compound heterozygosity for a predicted splicing variant and a complete gene deletion in the patient. Functional validation using RNA splicing assays confirmed aberrant splicing, establishing the molecular diagnosis of SEDKF. This case broadens the clinical and molecular spectrum of\n                    <jats:italic>MBTPS1<\/jats:italic>\n                    \u2010related disorders by presenting a novel combination of variants and phenotypic features.\n                  <\/jats:p>","DOI":"10.1111\/cge.70084","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T06:34:34Z","timestamp":1759214074000},"page":"747-753","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel\n                    <scp>MBTPS1<\/scp>\n                    Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo\u2010Fu Type"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3701-1657","authenticated-orcid":false,"given":"Elsa","family":"Lucas\u2010Castro","sequence":"first","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Reference Network on Rare BONe Disorders (ERN\u2010BOND)"},{"name":"Escuela de Doctorado, Universidad Aut\u00f3noma de Madrid  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1364-7586","authenticated-orcid":false,"given":"Francisca","family":"Diaz\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Reference Network on Rare BONe Disorders (ERN\u2010BOND)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2409-4422","authenticated-orcid":false,"given":"Silvia","family":"Modamio\u2010H\u00f8ybjor","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Reference Network on Rare BONe Disorders (ERN\u2010BOND)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0244-6762","authenticated-orcid":false,"given":"Manuel","family":"Parr\u00f3n\u2010Pajares","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Reference Network on Rare BONe Disorders (ERN\u2010BOND)"},{"name":"Department of Radiology Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9143-3677","authenticated-orcid":false,"given":"Sonia","family":"Pajares","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism\u2010IBC, Department of Biochemistry and Molecular Genetics Hospital Cl\u00ednic de Barcelona  Barcelona Spain"},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4746-1034","authenticated-orcid":false,"given":"Laura","family":"Gort","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism\u2010IBC, Department of Biochemistry and Molecular Genetics Hospital Cl\u00ednic de Barcelona  Barcelona Spain"},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5611-2659","authenticated-orcid":false,"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"ITHACA. European Research Network"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6324-4825","authenticated-orcid":false,"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"ITHACA. European Research Network"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9286-2796","authenticated-orcid":false,"given":"Antonio","family":"Leiva\u2010Gea","sequence":"additional","affiliation":[{"name":"UGC Cirug\u00eda Ortop\u00e9dica y Traumatolog\u00eda, Hospital Universitario Virgen de la Victoria, Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga (IBIMA)\u2010Plataforma Bionand  M\u00e1laga Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-7044","authenticated-orcid":false,"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Reference Network on Rare BONe Disorders (ERN\u2010BOND)"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,29]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.121596"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.733"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202114904"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63499"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.205"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61833"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61614"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/5498109"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1056141"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1068718"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics14030313"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.201524598"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1205677"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70084","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70084","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70084","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:16:18Z","timestamp":1775801778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,29]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1111\/cge.70084"],"URL":"https:\/\/doi.org\/10.1111\/cge.70084","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70084\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70084\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70084\/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":[[2025,9,29]]},"assertion":[{"value":"2025-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}