{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T08:51:20Z","timestamp":1648630280533},"reference-count":23,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A six-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) was investigated by genetic linkage and mutation analysis. SEDT had been mapped on the X-chromosome (Xp22.2), and the clinical and radiographic evolution of this kindred had been published.<\/jats:p>\n               <jats:p>Linkage analysis proved informative for all five polymorphic markers tested, and DXS987 and DXS16 co-segregated with the Arkansas kindred (peak logarithm of the odds scores, 3.54 and 3.36, respectively). Subsequently, dinucleotide deletion in a new gene designated \u201csedlin\u201d was reported to cause SEDT in three families. In an affected man and obligate carrier woman in the Arkansas kindred, we found a 5-bp deletion in exon 5 of sedlin. The defect causes a frameshift, resulting in eight missense amino acids and premature termination. The 5-bp deletion was then demonstrated to segregate with SEDT in the four living generations, including eight affected males and nine obligate carrier females. Furthermore, the deletion was identified in four females who potentially were heterozygous carriers for SEDT. The mutation was not detected in the two young sons of the consultand (believed to be a carrier because of her subtle radiographic skeletal changes and then shown to have the deletion), but they were too young for x-ray diagnosis.<\/jats:p>\n               <jats:p>Identification of a defect in sedlin in this SEDT kindred enables carrier detection and presymptomatic diagnosis and reveals an important role for this gene in postnatal endochondral bone formation.<\/jats:p>","DOI":"10.1210\/jcem.85.9.6840","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:06:07Z","timestamp":1389200767000},"page":"3343-3347","source":"Crossref","is-referenced-by-count":0,"title":["A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred*"],"prefix":"10.1210","volume":"85","author":[{"given":"Steven","family":"Mumm","sequence":"first","affiliation":[{"name":"Division of Bone and Mineral Diseases (S.M., P.F., J.J., G.S.G., M.P.W.), Washington University School of Medicine at Barnes-Jewish Hospital and Metabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri 63110 and 63131"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul T.","family":"Christie","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Molecular Endocrinology Group (P.T.C., P.H.D., A.A.J.P., B.H., R.V.T.), MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London W12 ONN, United Kingdom"},{"name":"Molecular Endocrinology Group (P.T.C., A.A.J.P., B.H., R.V.T.), Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DU, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Finnegan","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases (S.M., P.F., J.J., G.S.G., M.P.W.), Washington University School of Medicine at Barnes-Jewish Hospital and Metabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri 63110 and 63131"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases (S.M., P.F., J.J., G.S.G., M.P.W.), Washington University School of Medicine at Barnes-Jewish Hospital and Metabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri 63110 and 63131"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Dixon","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Molecular Endocrinology Group (P.T.C., P.H.D., A.A.J.P., B.H., R.V.T.), MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London W12 ONN, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna A. J.","family":"Pannett","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Molecular Endocrinology Group (P.T.C., P.H.D., A.A.J.P., B.H., R.V.T.), MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London W12 ONN, United Kingdom"},{"name":"Molecular Endocrinology Group (P.T.C., A.A.J.P., B.H., R.V.T.), Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DU, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian","family":"Harding","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Molecular Endocrinology Group (P.T.C., P.H.D., A.A.J.P., B.H., R.V.T.), MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London W12 ONN, United Kingdom"},{"name":"Molecular Endocrinology Group (P.T.C., A.A.J.P., B.H., R.V.T.), Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DU, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary S.","family":"Gottesman","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases (S.M., P.F., J.J., G.S.G., M.P.W.), Washington University School of Medicine at Barnes-Jewish Hospital and Metabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri 63110 and 63131"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh V.","family":"Thakker","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Molecular Endocrinology Group (P.T.C., P.H.D., A.A.J.P., B.H., R.V.T.), MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London W12 ONN, United Kingdom"},{"name":"Molecular Endocrinology Group (P.T.C., A.A.J.P., B.H., R.V.T.), Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DU, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael P.","family":"Whyte","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases (S.M., P.F., J.J., G.S.G., M.P.W.), Washington University School of Medicine at Barnes-Jewish Hospital and Metabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri 63110 and 63131"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071614381626900_R1","article-title":"Chondrodysplasias. 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