Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome

Loi M (2006) Lowe syndrome. Orphanet J Rare Dis 1:16. https://doi.org/10.1186/1750-1172-1-16

Article  PubMed  PubMed Central  Google Scholar 

Lowe CU, Terrey M, MacLachlan EA (1952) Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child 83:164–184. https://doi.org/10.1001/archpedi.1952.02040060030004

Article  CAS  PubMed  Google Scholar 

Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M (2015) Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol 30:931–943. https://doi.org/10.1007/s00467-014-3013-2

Article  PubMed  Google Scholar 

Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA (1988) MRI findings and peripheral neuropathy in Lowe’s syndrome. Neuropediatrics 19:7–9. https://doi.org/10.1055/s-2008-1052393

Article  CAS  PubMed  Google Scholar 

Demmer LA, Wippold FJ 2nd, Dowton SB (1992) Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. Pediatr Radiol 22:76–77. https://doi.org/10.1007/BF02011619

Article  CAS  PubMed  Google Scholar 

Bockenhauer D, Bokenkamp A, van’t Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M (2008) Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3:1430–1436. https://doi.org/10.2215/CJN.00520108

Article  PubMed  PubMed Central  Google Scholar 

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA (2006) A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. J Hum Genet 51:1030–1036. https://doi.org/10.1007/s10038-006-0049-6

Article  CAS  PubMed  Google Scholar 

Hodgson SV, Heckmatt JZ, Hughes E, Crolla JA, Dubowitz V, Bobrow M (1986) A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet 23:837–847. https://doi.org/10.1002/ajmg.1320230311

Article  CAS  PubMed  Google Scholar 

Lin T, Lewis RA, Nussbaum RL (1999) Molecular confirmation of carriers for Lowe syndrome. Ophthalmology 106:119–122. https://doi.org/10.1016/S0161-6420(99)90012-X

Article  CAS  PubMed  Google Scholar 

Pirruccello M, De Camilli P (2012) Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci 37:134–143. https://doi.org/10.1016/j.tibs.2012.01.002

Article  CAS  PubMed  PubMed Central  Google Scholar 

Recker F, Reutter H, Ludwig M (2013) Lowe syndrome/Dent-2 disease: a comprehensive review of known and novel aspects. J Pediatr Genet 2:53–68. https://doi.org/10.3233/PGE-13049

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mehta ZB, Pietka G, Lowe M (2014) The cellular and physiological functions of the Lowe syndrome protein OCRL1. Traffic 15:471–487. https://doi.org/10.1111/tra.12160

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, Godi A, Levtchenko E, De Leo MG, Polishchuk R, Sandoval L, Marzolo MP, De Matteis MA (2011) OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin. EMBO J 30:4970–4985. https://doi.org/10.1038/emboj.2011.354

Article  CAS  PubMed  PubMed Central  Google Scholar 

Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O (2019) OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. Hum Mol Genet 28:1931–1946. https://doi.org/10.1093/hmg/ddy449

Article  CAS  PubMed  Google Scholar 

Karabiyik C, Son SM, Rubinsztein DC (2021) Lysosome positioning and mTOR activity in Lowe syndrome. EMBO Rep 22:53232. https://doi.org/10.15252/embr.202153232

Article  CAS  Google Scholar 

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J (2011) From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat 32:379–388. https://doi.org/10.1002/humu.21391

Article  CAS  PubMed  Google Scholar 

Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M (2013) A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the “O” in OCRL. Klin Padiatr 225:29–33. https://doi.org/10.1055/s-0032-1321900

Article  CAS  PubMed  Google Scholar 

Bökenkamp A, Ludwig M (2016) The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol 31:2201–2212. https://doi.org/10.1007/s00467-016-3343-3

Article  PubMed  PubMed Central  Google Scholar 

Zhang Y, Deng L, Chen X, Hu Y, Chen Y, Chen K, Zhou J (2021) Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review. BMC Med Genomics 14:219. https://doi.org/10.1186/s12920-021-01069-9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ (2005) Dent disease with mutations in OCRL1. Am J Hum Genet 76:260–267. https://doi.org/10.1086/427887

Article  CAS  PubMed  Google Scholar 

Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M (2006) Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 48:942.e1-e14. https://doi.org/10.1053/j.ajkd.2006.08.018

Article  CAS  PubMed  Google Scholar 

Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M (2009) Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr 155:94–99. https://doi.org/10.1016/j.jpeds.2009.01.049

Article  PubMed  Google Scholar 

Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, Van’t Hoff W, Sirimanna T, Vrljicak K, Ludwig M (2012) Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet 1:15–23. https://doi.org/10.3233/PGE-2012-005

Article  PubMed  PubMed Central  Google Scholar 

Li H, Ji CY, Zong XN, Zhang YQ (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years. Zhonghua er ke za zhi (Chin J Pediatr) 47:487–492

PubMed  Google Scholar 

Li H, Ji CY, Zong XN, Zhang YQ (2009) Body mass index growth curves for Chinese children and adolescents aged 0 to 18 years. Zhonghua er ke za zhi (Chin J Pediatr) 47:493–498

PubMed  Google Scholar 

(2018) A national survey on physical growth and development of children under seven years of age in nine cities of China in 2015. Zhonghua er ke za zhi (Chin J Pediatr) 56:192–199. https://doi.org/10.3760/cma.j.issn.0578-1310.2018.03.008

Matos V, van Melle G, Boulat O, Markert M, Bachmann C, Guignard JP (1997) Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population. J Pediatr 131:252–257. https://doi.org/10.1016/s0022-3476(97)70162-8

Article  CAS  PubMed  Google Scholar 

Kruse K, Kracht U, Göpfert G (1982) Renal threshold phosphate concentration (TmPO4/GFR). Arch Dis Child 57:217–223. https://doi.org/10.1136/adc.57.3.217

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