{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T04:18:43Z","timestamp":1789359523528,"version":"build-2803163510"},"reference-count":24,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G&gt;A;<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi mathvariant=\"normal\">p<\/mml:mi><mml:mi mathvariant=\"normal\">T<\/mml:mi><mml:mi mathvariant=\"normal\">r<\/mml:mi><mml:mi mathvariant=\"normal\">P<\/mml:mi><mml:msup><mml:mrow><mml:mn mathvariant=\"normal\">757<\/mml:mn><\/mml:mrow><mml:mrow><mml:mo>\u204e<\/mml:mo><\/mml:mrow><\/mml:msup><\/mml:math>); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third<jats:italic>\u03b2<\/jats:italic>-propeller domain of the LRP5 protein. Both parents were heterozygous for the mutation. This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG.<\/jats:p>","DOI":"10.1155\/2016\/9814928","type":"journal-article","created":{"date-parts":[[2016,1,19]],"date-time":"2016-01-19T16:35:21Z","timestamp":1453221321000},"page":"1-5","source":"Crossref","is-referenced-by-count":7,"title":["Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in<i>LRP5<\/i>"],"prefix":"10.1155","volume":"2016","author":[{"given":"Noura","family":"Biha","sequence":"first","affiliation":[{"name":"Rheumatology Department, Nouakchott Military Hospital, Mauritania"},{"name":"Facult\u00e9 de M\u00e9decine de Nouakchott, Mauritania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. M.","family":"Ghaber","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Nouakchott, Mauritania"},{"name":"Service des Laboratoires, Centre Hospitalier National de Nouakchott, Mauritania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. M.","family":"Hacen","sequence":"additional","affiliation":[{"name":"Service de Chirurgie Orthop\u00e9dique, H\u00f4pital Militaire de Nouakchott, Mauritania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Lariboisi\u00e8re, Laboratoire de Biochimie et de Biologie Mol\u00e9culaire, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"23","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2009.11.013"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.42"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1159\/000297129"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00571-2"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1038\/nature01873"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2004.10.008"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1038\/bonekey.2012.1"},{"key":"35","doi-asserted-by":"publisher","DOI":"10.1086\/368277"},{"issue":"1","key":"15","first-page":"146","volume":"59","year":"1996","journal-title":"The American Journal of Human Genetics"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.8.543"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200201089"},{"key":"1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2403"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-007-0360-x"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.32"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1210\/en.2006-1352"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2008.04.020"},{"issue":"3","key":"39","first-page":"270","volume":"15","year":"2011","journal-title":"Atlas of Genetics and Cytogenetics in Oncology and Haematology"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1016\/s1097-2765(00)80327-5"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1086\/497706"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1210\/en.2007-0270"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-007-9024-2"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2005.20.1.75"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1086\/420771"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2474-15-144"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2016\/9814928.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2016\/9814928.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2016\/9814928.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T00:02:24Z","timestamp":1471564944000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2016\/9814928\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":24,"alternative-id":["9814928","9814928"],"URL":"https:\/\/doi.org\/10.1155\/2016\/9814928","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}