{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T03:12:01Z","timestamp":1779160321863,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T00:00:00Z","timestamp":1512950400000},"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":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad encompassing major abnormalities of the eyes, the kidneys, and the central nervous system. We are reporting a 23\u2010year\u2010old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the <jats:italic>OCRL<\/jats:italic> gene detected a p.His375Arg mutation in the catalytic domain of the protein. The patient suffered from bilateral congenital cataracts and glaucoma, striking growth deficiency, severe psychomotor disability, a severe osteopathy, and seizures, but only minimal renal dysfunction. Although the biological mechanisms underlying the pathophysiology of LS manifestations is yet unclear, it has been proposed that growth delay and osteopathy are linked to a renal dysfunction. This report, however, argues this association and suggests that kidney dysfunction may partially explain the growth deficiency and bone abnormalities, but other still undefined factors might have a potential impact.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38572","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T05:40:55Z","timestamp":1512970855000},"page":"460-464","source":"Crossref","is-referenced-by-count":3,"title":["\u201cLowe syndrome: A particularly severe phenotype without clinical kidney involvement\u201d"],"prefix":"10.1002","volume":"176","author":[{"given":"Ebtesam","family":"Abdalla","sequence":"first","affiliation":[{"name":"Department of Human Genetics Medical Research Institute Alexandria University Alexandria Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"El\u2010Beheiry","sequence":"additional","affiliation":[{"name":"Department of Radiology Alexandria Faculty of Medicine Alexandria University Alexandria Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4362-4062","authenticated-orcid":false,"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation CHU Grenoble Alpes Universit\u00e9 Grenoble Alpes Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation CHU Grenoble Alpes Universit\u00e9 Grenoble Alpes Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Faur\u00e9","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie Pharmacologie Toxicologie Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire Centre Hospitalier Universitaire Grenoble Alpes Universit\u00e9 Grenoble Alpes Grenoble France"},{"name":"Grenoble Institut des Neurosciences Inserm U1216\u2013Eq. 4 C\u2010MyPath LaTronche France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0377-0807","authenticated-orcid":false,"given":"John","family":"Rendu","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie Pharmacologie Toxicologie Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire Centre Hospitalier Universitaire Grenoble Alpes Universit\u00e9 Grenoble Alpes Grenoble France"},{"name":"Grenoble Institut des Neurosciences Inserm U1216\u2013Eq. 4 C\u2010MyPath LaTronche France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.00520108"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.01.049"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3343-3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105093241904"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1093\/bioinformatics\/btv511","article-title":"DIVAS: A centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts","volume":"32","author":"Cheng W.\u2010Y.","year":"2015","journal-title":"Bioinformatics"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-6646(09)60397-1"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.16.9370"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590304"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_13_1","volume-title":"GeneReviews\u00ae","author":"Lewis R.","year":"2001"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2687"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-16"},{"key":"e_1_2_7_16_1","volume-title":"Living With Lowe syndrome: A guide for Families, Friends and Professionals","author":"Mcspadden K.","year":"2010"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12160"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.5b00838"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9"},{"key":"e_1_2_7_20_1","first-page":"6257","volume-title":"The oculocerebrorenal syndrome of Lowe (Lowe syndrome)","author":"Nussbaum R. 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