{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T05:25:17Z","timestamp":1747286717873},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T00:00:00Z","timestamp":1589846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T00:00:00Z","timestamp":1589846400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1038\/s10038-020-0773-3","type":"journal-article","created":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T04:17:51Z","timestamp":1589861871000},"page":"831-839","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome"],"prefix":"10.1038","volume":"65","author":[{"given":"Eiji","family":"Nakano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amine","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yudai","family":"Miyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoo","family":"Yabuuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Kajiho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoichiro","family":"Kanda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichiro","family":"Miura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Oka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Harita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,5,19]]},"reference":[{"key":"773_CR1","doi-asserted-by":"publisher","first-page":"1420","DOI":"10.1086\/344517","volume":"71","author":"SF Suchy","year":"2002","unstructured":"Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. 2002;71:1420\u20137.","journal-title":"Am J Hum Genet"},{"key":"773_CR2","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1038\/nrneph.2017.83","volume":"13","author":"MA De Matteis","year":"2017","unstructured":"De Matteis MA, Staiano L, Emma F, Devuyst O. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. Nat Rev Nephrol. 2017;13:455\u201370.","journal-title":"Nat Rev Nephrol"},{"key":"773_CR3","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1086\/427887","volume":"76","author":"RR Hoopes","year":"2005","unstructured":"Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, et al. Dent disease with mutations in OCRL1. Am J Hum Genet. 2005;76:260\u20137.","journal-title":"Am J Hum Genet"},{"key":"773_CR4","doi-asserted-by":"publisher","first-page":"2201","DOI":"10.1007\/s00467-016-3343-3","volume":"31","author":"A B\u00f6kenkamp","year":"2016","unstructured":"B\u00f6kenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016;31:2201\u201312.","journal-title":"Pediatr Nephrol."},{"key":"773_CR5","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1007\/s00467-014-3013-2","volume":"30","author":"F Recker","year":"2015","unstructured":"Recker F, Zaniew M, B\u00f6ckenhauer D, Miglietti N, B\u00f6kenkamp A, Moczulska A, et al. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol. 2015;30:931\u201343.","journal-title":"Pediatr Nephrol."},{"key":"773_CR6","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/humu.21391","volume":"32","author":"H Hichri","year":"2011","unstructured":"Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, et al. From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011;32:379\u201388.","journal-title":"Hum Mutat."},{"key":"773_CR7","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-16","volume":"1","author":"Loi Mario","year":"2006","unstructured":"Mario Loi. Lowe syndrome. Orphanet J Rare Dis. 2006;1:16.","journal-title":"Orphanet J Rare Dis"},{"key":"773_CR8","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1055\/s-2001-12221","volume":"32","author":"JFL Schneider","year":"2001","unstructured":"Schneider JFL, Boltshauser E, Neuhaus TJ, Rauscher C, Martin E. MRI and proton spectroscopy in Lowe syndrome. Neuropediatrics. 2001;32:45\u20138.","journal-title":"Neuropediatrics."},{"key":"773_CR9","doi-asserted-by":"publisher","first-page":"1430","DOI":"10.2215\/CJN.00520108","volume":"3","author":"D Bockenhauer","year":"2008","unstructured":"Bockenhauer D, Bokenkamp A. van\u2019t Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, et al. Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008;3:1430\u20136.","journal-title":"Clin J Am Soc Nephrol"},{"key":"773_CR10","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1136\/adc.39.205.240","volume":"39","author":"CE Dent","year":"1964","unstructured":"Dent CE, Friedman M. Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child. 1964;39:240\u20139.","journal-title":"Arch Dis Child"},{"key":"773_CR11","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1046\/j.1523-1755.2000.00916.x","volume":"57","author":"RV Thakker","year":"2000","unstructured":"Thakker RV. Pathogenesis of Dent\u2019s disease and related syndromes of X-linked nephrolithiasis. Kidney Int. 2000;57:787\u201393.","journal-title":"Kidney Int."},{"key":"773_CR12","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1159\/000213506","volume":"112","author":"AE Shrimpton","year":"2009","unstructured":"Shrimpton AE, Hoopes RR, Knohl SJ, Hueber P, Reed AAC, Christie PT, et al. OCRL1 mutations in dent 2 patients suggest a mechanism for phenotypic variability. Nephron - Physiol. 2009;112:27\u201336.","journal-title":"Nephron - Physiol"},{"key":"773_CR13","doi-asserted-by":"publisher","first-page":"1967","DOI":"10.1007\/s00467-009-1228-4","volume":"24","author":"E Tosetto","year":"2009","unstructured":"Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, et al. Locus heterogeneity of Dent\u2019s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatr Nephrol. 2009;24:1967\u201373.","journal-title":"Pediatr Nephrol."},{"key":"773_CR14","doi-asserted-by":"publisher","first-page":"9370","DOI":"10.1074\/jbc.270.16.9370","volume":"270","author":"AB Jefferson","year":"1995","unstructured":"Jefferson AB, Majerus PW. Properties of type II inositol polyphosphate 5-phosphatase. J Biol Chem. 1995;270:9370\u20137.","journal-title":"J Biol Chem"},{"key":"773_CR15","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1681\/ASN.2016080913","volume":"28","author":"K Inoue","year":"2017","unstructured":"Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, et al. Kidney tubular ablation of Ocrl\/Inpp5b phenocopies lowe syndrome tubulopathy. J Am Soc Nephrol. 2017;28:1399\u2013407.","journal-title":"J Am Soc Nephrol"},{"key":"773_CR16","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1093\/hmg\/ddu514","volume":"24","author":"R Montjean","year":"2015","unstructured":"Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R, et al. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. Hum Mol Genet. 2015;24:994\u20131006.","journal-title":"Hum Mol Genet"},{"key":"773_CR17","doi-asserted-by":"publisher","first-page":"4364","DOI":"10.1093\/nar\/28.21.4364","volume":"28","author":"M Burset","year":"2000","unstructured":"Burset M. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res. 2000;28:4364\u201375.","journal-title":"Nucleic Acids Res"},{"key":"773_CR18","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1038\/nrm4063","volume":"16","author":"S Lykke-Andersen","year":"2015","unstructured":"Lykke-Andersen S, Jensen TH. Nonsense-mediated mRNA decay: An intricate machinery that shapes transcriptomes. Nat Rev Mol Cell Biol. 2015;16:665\u201377.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"773_CR19","first-page":"29","volume":"225","author":"SM Pasternack","year":"2013","unstructured":"Pasternack SM, B\u00f6ckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, et al. A premature termination mutation in a patient with lowe syndrome without congenital cataracts: Dropping the \u201cO\u201d in OCRL. Klin Padiatr. 2013;225:29\u201333.","journal-title":"Klin Padiatr"},{"key":"773_CR20","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.jpeds.2009.01.049","volume":"155","author":"A B\u00f6kenkamp","year":"2009","unstructured":"B\u00f6kenkamp A, B\u00f6ckenhauer D, Cheong H,II, Hoppe B, Tasic V, Unwin R. et al. Dent-2 disease: a mild variant of lowe syndrome. J Pediatr. 2009;155:94\u20139.","journal-title":"J Pediatr"},{"key":"773_CR21","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3233\/PGE-2012-005","volume":"1","author":"D B\u00f6ckenhauer","year":"2012","unstructured":"B\u00f6ckenhauer D, B\u00f6kenkamp A, Nuutinen M, Unwin R, Van\u2019t Hoff W, Sirimanna T, et al. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet. 2012;1:15\u201323.","journal-title":"J Pediatr Genet"},{"key":"773_CR22","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1242\/jcs.181008","volume":"129","author":"T Kurosaki","year":"2016","unstructured":"Kurosaki T, Maquat LE. Nonsense-mediated mRNA decay in humans at a glance. J Cell Sci. 2016;129:461\u20137.","journal-title":"J Cell Sci"},{"key":"773_CR23","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.ejmg.2017.08.001","volume":"60","author":"K Nakanishi","year":"2017","unstructured":"Nakanishi K, Nozu K, Hiramoto R, Minamikawa S, Yamamura T, Fujimura J, et al. A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome. Eur J Med Genet. 2017;60:631\u20134.","journal-title":"Eur J Med Genet"},{"key":"773_CR24","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1002\/humu.23139","volume":"38","author":"J Rendu","year":"2017","unstructured":"Rendu J, Montjean R, Coutton C, Suri M, Chicanne G, Petiot A, et al. Functional characterization and rescue of a deep intronic mutation in OCRL gene responsible for Lowe syndrome. Hum Mutat. 2017;38:152\u20139.","journal-title":"Hum Mutat."},{"key":"773_CR25","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9","volume":"16","author":"N Monnier","year":"2000","unstructured":"Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in french lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16:157\u201365.","journal-title":"Hum Mutat."},{"key":"773_CR26","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1002\/humu.9239","volume":"23","author":"M Addis","year":"2004","unstructured":"Addis M, Loi M, Lepiani C, Cau M, Melis MA. OCRL mutation analysis in Italian patients with Lowe syndrome. Hum Mutat. 2004;23:524\u20135.","journal-title":"Hum Mutat."},{"key":"773_CR27","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1007\/s10157-008-0059-0","volume":"12","author":"SK Sethi","year":"2008","unstructured":"Sethi SK, Bagga A, Gulati A, Hari P, Gupta N, Lunardi J. Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clin Exp Nephrol. 2008;12:358\u201362.","journal-title":"Clin Exp Nephrol"},{"key":"773_CR28","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1038\/s41598-017-18445-0","volume":"8","author":"H Ono","year":"2018","unstructured":"Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, et al. Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. Sci Rep. 2018;8:4\u201311.","journal-title":"Sci Rep."},{"key":"773_CR29","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1056\/NEJM199410133311503","volume":"331","author":"WE Highsmith","year":"1994","unstructured":"Highsmith WE, Burchl LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 1994;331:974\u201380.","journal-title":"N Engl J Med"},{"key":"773_CR30","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1006\/geno.1998.5517","volume":"53","author":"O Chiba-Falek","year":"1998","unstructured":"Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, et al. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C\u2192T mutation. Genomics. 1998;53:276\u201383.","journal-title":"Genomics."},{"key":"773_CR31","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1038\/nature07509","volume":"456","author":"ET Wang","year":"2008","unstructured":"Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, et al. Alternative isoform regulation in human tissue transcriptomes. Nature. 2008;456:470\u20136.","journal-title":"Nature."},{"key":"773_CR32","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1038\/ng.259","volume":"40","author":"Q Pan","year":"2008","unstructured":"Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet. 2008;40:1413\u20135.","journal-title":"Nat Genet."},{"key":"773_CR33","doi-asserted-by":"publisher","first-page":"1744","DOI":"10.1093\/hmg\/ddr608","volume":"21","author":"IBR Ramirez","year":"2012","unstructured":"Ramirez IBR, Pietka G, Jones DR, Divecha N, Alia A, Baraban SC, et al. Impaired neural development in a zebrafish model for lowe syndrome. Hum Mol Genet. 2012;21:1744\u201359.","journal-title":"Hum Mol Genet"},{"key":"773_CR34","doi-asserted-by":"publisher","unstructured":"Oltrabella F, Pietka G, Ramirez IBR, Mironov A, Starborg T, Drummond IA, et al. The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish Pronephric Tubule. PLoS Genet. 2015. https:\/\/doi.org\/10.1371\/journal.pgen.1005058.","DOI":"10.1371\/journal.pgen.1005058"},{"key":"773_CR35","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.tig.2015.01.001","volume":"31","author":"E de Klerk","year":"2015","unstructured":"de Klerk E, \u2019t Hoen PAC. Alternative mRNA transcription, processing, and translation: Insights from RNA sequencing. Trends Genet.2015;31:128\u201339.","journal-title":"Trends Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s10038-020-0773-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-020-0773-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-020-0773-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:09:04Z","timestamp":1684616944000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-020-0773-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,19]]},"references-count":35,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["773"],"URL":"https:\/\/doi.org\/10.1038\/s10038-020-0773-3","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,19]]},"assertion":[{"value":"17 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 May 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 May 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 May 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}