{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T12:09:31Z","timestamp":1767182971201},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,5,5]],"date-time":"2005-05-05T00:00:00Z","timestamp":1115251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Schimke\u2010immuno\u2010osseous dysplasia (SIOD) is a multisystem disorder with the following consistent clinical features: spondyloepiphyseal dysplasia with disproportional growth deficiency, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Transitory ischemic attacks due to vaso\u2010occlusive processes are complications in some patients with severe SIOD. Recently, mutations of <jats:italic>SMARCAL1<\/jats:italic>, which encodes a putative chromatin remodelling protein, have been associated with SIOD. Patients with milder disease were observed to harbor a missense mutation on each allele, whereas patients with a severe form of the disease were predicted to have at least one allele with a nonsense, frameshift or splicing mutation. We report two brothers who are both compound heterozygous for the mutations 836 T\u2009&gt;\u2009C and 2542 G\u2009&gt;\u2009T detected in exons 4 and 17, respectively. We demonstrate the lack of genotype\u2013phenotype correlation in these patients as one brother shows some features of the severe form while the other does not. Neither clinical nor molecular findings can fully predict the clinical course of SIOD. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30691","type":"journal-article","created":{"date-parts":[[2005,5,6]],"date-time":"2005-05-06T23:21:49Z","timestamp":1115421709000},"page":"202-205","source":"Crossref","is-referenced-by-count":27,"title":["Schimke\u2010immuno\u2010osseous dysplasia: New mutation with weak genotype\u2013phenotype correlation in siblings"],"prefix":"10.1002","volume":"135A","author":[{"given":"Thomas","family":"L\u00fccke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Billing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily A.","family":"Sloan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Franke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Zimmering","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen H.H.","family":"Ehrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anibh M.","family":"Das","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<118::AID-AJMG4>3.0.CO;2-K"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng821"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2004.04.015"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6174"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00858821"},{"key":"e_1_2_5_8_1","first-page":"89","article-title":"Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia","volume":"43","author":"Ehrich JHH","year":"1995","journal-title":"Clin Nephrol"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490304"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.5.061903.180014"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.922"},{"key":"e_1_2_5_12_1","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1055\/s-0038-1626309","article-title":"Zur Neurologie bei der immuno\u2010oss\u00e4ren Dysplasie Schimke (IODS)","volume":"22","author":"L\u00fccke T","year":"2003","journal-title":"Nervenheilkunde"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-004-1426-z"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90400-4"},{"key":"e_1_2_5_15_1","first-page":"258","article-title":"Chondroitin\u20106\u2010sulphate mucopolysaccaridosis in conjunction with lymphopenia, defective cellular immunity and nephritic syndrome","volume":"10","author":"Schimke RN","year":"1974","journal-title":"Birth Defects"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050714"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81040-6"}],"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.30691","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30691","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:53:42Z","timestamp":1697655222000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30691"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,5]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1002\/ajmg.a.30691"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30691","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,5]]}}}