{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T22:09:26Z","timestamp":1767650966227},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T00:00:00Z","timestamp":1335139200000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta type VI (OI type VI) is a rare autosomal recessive disorder caused by mutations in the <jats:italic>SERPINF1<\/jats:italic> gene that encodes pigment epithelium\u2010derived factor (PEDF). Cystinosis is an autosomal recessive lysosomal transport disorder caused by mutations in the <jats:italic>CTNS<\/jats:italic> gene. Both <jats:italic>SERPINF1<\/jats:italic> and <jats:italic>CTNS<\/jats:italic> are located on chromosome 17p13.3. We describe an individual presenting with both OI type VI and cystinosis. The patient was diagnosed with cystinosis at the age of 11 months and OI type VI on bone biopsy at the age of 8 years. He has sustained over 30 fractures during his lifetime, and at the age of 19 years entered end\u2010stage renal disease and subsequent renal transplant. An Affymetrix 6.0 array was used to look for areas of loss of heterozygosity on chromosome 17. Sequencing of the <jats:italic>SERPINF1<\/jats:italic> and <jats:italic>CTNS<\/jats:italic> genes was performed, followed by quantitative PCR and Western blot of PEDF to characterize the identified mutation. A 6.58\u2009Mb region of homozygosity was identified on the Affymetrix 6.0 array, encompassing both the <jats:italic>SERPINF1<\/jats:italic> and <jats:italic>CTNS<\/jats:italic> genes. Sequencing of the genes identified homozygosity for a known pathogenic <jats:italic>CTNS<\/jats:italic> mutation and for a novel in\u2010frame duplication in <jats:italic>SERPINF1<\/jats:italic>. Skin fibroblasts produced a markedly reduced amount of <jats:italic>SERPINF1<\/jats:italic> transcript and PEDF protein. This patient has the concurrent phenotype of two rare recessive diseases, cystinosis and OI type VI. We identified for the first time an in\u2010frame duplication in <jats:italic>SERPINF1<\/jats:italic> that is responsible for the OI type VI phenotype in this patient. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35319","type":"journal-article","created":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T21:27:39Z","timestamp":1335216459000},"page":"1422-1426","source":"Crossref","is-referenced-by-count":20,"title":["A co\u2010occurrence of osteogenesis imperfecta type VI and cystinosis"],"prefix":"10.1002","volume":"158A","author":[{"given":"Tracy","family":"Tucker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanya","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Sirrs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Roughley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis H.","family":"Glorieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Moffatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamilla","family":"Schlade\u2010Bartusiak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,4,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.11.139"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.015"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652410791065345"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.253"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22072"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(99)00257-4"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2002.17.1.30"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.487"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh152"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2006.10.010"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0650-8"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302118"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.211268598"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.20360"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.141"}],"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.35319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T14:25:43Z","timestamp":1697034343000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,23]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1002\/ajmg.a.35319"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35319","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,23]]}}}