{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T00:16:26Z","timestamp":1710375386569},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2001,12,1]],"date-time":"2001-12-01T00:00:00Z","timestamp":1007164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Spondyloepiphyseal dysplasia tarda (SEDT), an X-linked recessive skeletal disorder, presents with disproportionate short stature and \u201cbarrel-chest\u201d deformity in affected (hemizygous) adolescent boys. In four reported families to date, mutations in a gene designated SEDL (spondyloepiphyseal dysplasia late) cosegregate with SEDT. We diagnosed SEDT in a short-stature, kyphotic 15-year-old boy because of his characteristic vertebral malformations. Clinical manifestations of SEDT were evident in at least four previous generations. A novel 2-base pair (bp) deletion in exon 5 of SEDL was found in the propositus by polymerase chain reaction (PCR) amplification and sequencing of all four coding exons. The mutation ATdel241-242 cosegregated with the kindred's skeletal disease. The deletion is adjacent to a noncanonical splice site for exon 5 but does not alter splicing. Instead, it deletes 2 bp from the coding sequence, causing a frameshift. A maternal aunt and her three young sons were investigated subsequently. Radiographs showed subtle shaping abnormalities of her pelvis and knees, suggesting heterozygosity. X-rays of the spine and pelvis of her 8-year-old son revealed characteristic changes of SEDT, but her younger sons (aged 6 years and 3 years) showed no abnormalities. SEDL analysis confirmed that she and only her eldest boy had the 2-bp deletion. Molecular testing of SEDL enables carrier detection and definitive diagnosis before clinical or radiographic expression of SEDT. Although there is no specific treatment for SEDT, preexpression molecular testing of SEDL could be helpful if avoiding physical activities potentially injurious to the spine and the joints proves beneficial.<\/jats:p>","DOI":"10.1359\/jbmr.2001.16.12.2245","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T03:52:36Z","timestamp":1146109956000},"page":"2245-2250","source":"Crossref","is-referenced-by-count":5,"title":["Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in <i>SEDL<\/i> Encoding Sedlin"],"prefix":"10.1093","volume":"16","author":[{"given":"Steven","family":"Mumm","sequence":"first","affiliation":[{"name":"Center For Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"},{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital and Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiafang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital and Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary S.","family":"Gottesman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, St. Louis University School of Medicine, St. Louis, Missouri, USA"},{"name":"Center For Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William H.","family":"McAlister","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael P.","family":"Whyte","sequence":"additional","affiliation":[{"name":"Center For Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"},{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital and Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"2024020714114122400_bib1","doi-asserted-by":"crossref","DOI":"10.56021\/9780801857423","volume-title":"Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders","author":"Mckusick","year":"1998","edition":"12 ed"},{"key":"2024020714114122400_bib2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/00005792-199901000-00002","article-title":"X-linked spondyloepiphyseal 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