{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:46:53Z","timestamp":1788821213755,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T00:00:00Z","timestamp":1589760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1 HG006542"],"award-info":[{"award-number":["UM1 HG006542"]}],"id":[{"id":"10.13039\/100000051","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":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants in <jats:italic>MBTPS1<\/jats:italic> (membrane\u2010bound transcription factor peptidase, site 1) encoding the protein convertase site\u20101 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. She was found to be homozygous for a novel nonsense variant p.Trp983Ter in <jats:italic>MBTPS1<\/jats:italic>. In addition, she had normal levels of lysosomal enzyme activity in leukocytes but elevated levels in plasma. Our description confirms the existence of this new skeletal dysplasia and expands the phenotype and genotype of the disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.61614","type":"journal-article","created":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T09:47:34Z","timestamp":1589795254000},"page":"1796-1800","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in <scp><i>MBTPS1<\/i><\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3410-9704","authenticated-orcid":false,"given":"Daniel R.","family":"Carvalho","sequence":"first","affiliation":[{"name":"SARAH Network of Rehabilitation Hospitals  Brasilia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E.","family":"Speck\u2010Martins","sequence":"additional","affiliation":[{"name":"SARAH Network of Rehabilitation Hospitals  Brasilia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime M.","family":"Brum","sequence":"additional","affiliation":[{"name":"SARAH Network of Rehabilitation Hospitals  Brasilia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara L. M.","family":"Sobreira","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.121596"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11920"},{"key":"e_1_2_8_5_1","unstructured":"LiH(2013). Aligning sequence reads clone sequences and assembly contigs with BWA\u2010MEM.arXiv:1303.3997v1 [q\u2010bio.GN]."},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1205677"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1962"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.733"},{"key":"e_1_2_8_11_1","first-page":"145","volume-title":"Biochemical genetics: A laboratory manual","author":"Shapira E.","year":"1989"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22769"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61614","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61614","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61614","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T05:21:07Z","timestamp":1693804867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,18]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/ajmg.a.61614"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61614","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,18]]},"assertion":[{"value":"2020-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}