{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:06Z","timestamp":1747146186328,"version":"3.40.5"},"reference-count":41,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteoporosis\u2010pseudoglioma syndrome (OPPG; MIM #259770) is a rare autosomal recessively inherited disease, characterized by early\u2010onset osteoporosis and congenital blindness, caused by loss\u2010of\u2010function mutations in the <jats:italic>LRP5<\/jats:italic> gene. Beneficial effects of bisphosphonate treatment in patients with OPPG are well known, while follow\u2010up data on growth and pubertal parameters are limited. This article provides clinical follow\u2010up data and long\u2010term bisphosphonate treatment results in four OPPG patients from three unrelated families, ranging between 2.5 and 7\u2009years of age at presentation. Clinical diagnosis was molecularly confirmed in all patients, with four different germline biallelic <jats:italic>LRP5<\/jats:italic> mutations including a novel nonsense variant c.3517C&gt;T (p.(Gln1173*)) in two siblings with marked phenotypic variability. Anthropometric and pubertal data and bone mineral density (BMD) measurements were evaluated retrospectively. Early puberty was observed in two patients. The bisphosphonate treatment duration of patients varied around 4\u20137\u2009years and improvement in BMD <jats:italic>z<\/jats:italic>\u2010scores with bisphosphonate treatment was demonstrated in all patients (<jats:italic>z<\/jats:italic>\u2010score changes were +5.6, +4.0, +1.0, and +1.3). Although further research is needed to identify the possible association between early puberty and OPPG, all OPPG patients should be followed up with detailed endocrinological evaluation regarding pubertal status.<\/jats:p>","DOI":"10.1002\/ajmg.a.62742","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T07:31:12Z","timestamp":1649403072000},"page":"2061-2070","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Evaluation of growth, puberty, osteoporosis, and the response to long\u2010term bisphosphonate therapy in four patients with osteoporosis\u2010pseudoglioma syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8842-1752","authenticated-orcid":false,"given":"Esin","family":"Karakilic\u2010Ozturan","sequence":"first","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-5368","authenticated-orcid":false,"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Medical Genetics Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics Koc University, School of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3466-2857","authenticated-orcid":false,"given":"Ayse Pinar","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0594-8741","authenticated-orcid":false,"given":"Asli Derya","family":"Kardelen Al","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8971-6181","authenticated-orcid":false,"given":"Zehra","family":"Yavas Abali","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9545-6657","authenticated-orcid":false,"given":"Sahin","family":"Avci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Koc University, School of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"University Medical Center G\u00f6ttingen, Institute of Human Genetics  G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6806-9678","authenticated-orcid":false,"given":"Sukran","family":"Poyrazoglu","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9689-4464","authenticated-orcid":false,"given":"Firdevs","family":"Bas","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2035-4338","authenticated-orcid":false,"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Medical Genetics Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0376-499X","authenticated-orcid":false,"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Koc University, School of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4786-0780","authenticated-orcid":false,"given":"Feyza","family":"Darendeliler","sequence":"additional","affiliation":[{"name":"Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/497706"},{"issue":"2","key":"e_1_2_9_3_1","first-page":"105","article-title":"Alendronate treatment in children with osteogenesis imperfecta","volume":"45","author":"Ak\u00e7ay T.","year":"2008","journal-title":"Indian Pediatrics"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2008.21.8.811"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2006.19.3.275"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa013444"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.5650070204"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-017-4214-x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20916"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0133792100"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocd.2005.08.001"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(01)00571-2"},{"issue":"1","key":"e_1_2_9_13_1","first-page":"146","article-title":"Osteoporosis\u2010pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12\u201013","volume":"59","author":"Gong Y.","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24309"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M204989200"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/515470"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200201089"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2005.01.004"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.42"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"issue":"6","key":"e_1_2_9_23_1","first-page":"419","article-title":"Decreased bone density in carriers and patients of an Israeli family with the osteoporosis\u2010pseudoglioma syndrome","volume":"5","author":"Lev D.","year":"2003","journal-title":"The Israel Medical Association Journal"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.11.4355"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(70)90003-2"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.44.235.291"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2183"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3299-3"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03680.x"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2006-0383"},{"key":"e_1_2_9_32_1","first-page":"629","volume-title":"Honorary volume for professor DJ Aravantinos","author":"Segos C.","year":"1999"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.9.8.677"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.13768"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.8.543"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02199-3"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2008.04.020"},{"issue":"4","key":"e_1_2_9_38_1","first-page":"507","article-title":"Blindness, biologic rhythms, and menarche","volume":"30","author":"Thomas J. B.","year":"1967","journal-title":"Obstetrics and Gynecology"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3723-3"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1159\/000336193"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.144.3622.1154"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107838"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62742","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62742","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62742","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T08:54:38Z","timestamp":1692867278000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62742"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,8]]},"references-count":41,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/ajmg.a.62742"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62742","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2022,4,8]]},"assertion":[{"value":"2021-10-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}