oculocerebrorenal syndrome

Summary

Summary: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

Top Publications

  1. Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, et al. Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatr Nephrol. 2009;24:1967-73 pubmed publisher
  2. Roschinger W, Muntau A, Rudolph G, Roscher A, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000;69:213-22 pubmed
    Lowe oculocerebrorenal syndrome (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, muscular hypotonia, areflexia, mental retardation, maladaptive behavior, renal tubular dysfunction, vitamin-..
  3. Lowe M. Structure and function of the Lowe syndrome protein OCRL1. Traffic. 2005;6:711-9 pubmed
    b>Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder with the hallmark features of congenital cataracts, mental retardation and Fanconi syndrome of the kidney proximal tubules...
  4. Lin T, Orrison B, Suchy S, Lewis R, Nussbaum R. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab. 1998;64:58-61 pubmed
    ..Interestingly, missense mutations have occurred only in exons 12 through 15 in highly conserved residues among the phosphatidylinositol 5-phosphatases. These observations suggest useful strategies for mutation screening in OCRL...
  5. Faucherre A, Desbois P, Satre V, Lunardi J, Dorseuil O, Gacon G. Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network. Hum Mol Genet. 2003;12:2449-56 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by severe mental retardation, congenital cataracts and renal Fanconi syndrome...
  6. Dambournet D, Machicoane M, Chesneau L, Sachse M, Rocancourt M, El Marjou A, et al. Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis. Nat Cell Biol. 2011;13:981-8 pubmed publisher
    ..They also reveal an unexpected role for the phosphatase OCRL in cell division and shed new light on the pleiotropic phenotypes associated with Lowe disease...
  7. Kruger S, Wilson M, Hutchinson A, Peterseim M, Bartholomew L, Saunders R. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol. 2003;121:1234-7 pubmed
    b>Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules...
  8. Hou X, Hagemann N, Schoebel S, Blankenfeldt W, Goody R, Erdmann K, et al. A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1. EMBO J. 2011;30:1659-70 pubmed publisher
    The oculocerebrorenal syndrome of Lowe (OCRL), also called Lowe syndrome, is characterized by defects of the nervous system, the eye and the kidney...
  9. Addis M, Loi M, Lepiani C, Cau M, Melis M. OCRL mutation analysis in Italian patients with Lowe syndrome. Hum Mutat. 2004;23:524-5 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys...

More Information

Publications72

  1. Choudhury R, Diao A, Zhang F, Eisenberg E, Saint Pol A, Williams C, et al. Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol Biol Cell. 2005;16:3467-79 pubmed
    b>Oculocerebrorenal syndrome of Lowe is caused by mutation of OCRL1, a phosphatidylinositol 4,5-bisphosphate 5-phosphatase localized at the Golgi apparatus...
  2. Yuksel A, Karaca E, Albayram M. Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation. J Child Neurol. 2009;24:93-6 pubmed publisher
    ..56 ppm. Molecular analysis of OCRL1 gene revealed novel N574K mutation on 17th exon...
  3. Astle M, Seaton G, Davies E, Fedele C, Rahman P, Arsala L, et al. Regulation of phosphoinositide signaling by the inositol polyphosphate 5-phosphatases. IUBMB Life. 2006;58:451-6 pubmed
  4. Bockenhauer D, Bokenkamp A, Van t Hoff W, Levtchenko E, Kist van Holthe J, Tasic V, et al. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008;3:1430-6 pubmed publisher
    ..Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood...
  5. Schmid A, Wise H, Mitchell C, Nussbaum R, Woscholski R. Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation. FEBS Lett. 2004;576:9-13 pubmed
    The catalytic properties of the type II phosphoinositide 5-phosphatases of Lowe's oculocerebrorenal syndrome, INPP5B, Synaptojanin1, Synaptojanin2 and SKIP were analysed with respect to their substrate specificity and enzymological ..
  6. Lichter Konecki U, Farber L, Cronin J, Suchy S, Nussbaum R. The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Mol Genet Metab. 2006;89:121-8 pubmed
    ..It remains unknown whether a disrupted interaction between Arf and ocrl1 plays a role in the Lowe syndrome phenotype...
  7. Mueller O, Hartsfield J, Gallardo L, Essig Y, Miller K, Papenhausen P, et al. Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. Am J Hum Genet. 1991;49:804-10 pubmed
    A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, mental retardation, and proteinuria, is reported...
  8. Vicinanza M, D Angelo G, di Campli A, De Matteis M. Phosphoinositides as regulators of membrane trafficking in health and disease. Cell Mol Life Sci. 2008;65:2833-41 pubmed publisher
  9. Shrimpton A, Hoopes R, Knohl S, Hueber P, Reed A, Christie P, et al. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol. 2009;112:p27-36 pubmed publisher
    Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the oculocerebrorenal syndrome of Lowe.
  10. Coon B, Mukherjee D, Hanna C, Riese D, Lowe M, Aguilar R. Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase. Hum Mol Genet. 2009;18:4478-91 pubmed publisher
    ..Collectively, our results suggest that Ocrl1, but not Inpp5b, is involved in ruffle-mediated membrane remodeling. Our results provide new elements for understanding how Ocrl1 deficiency leads to the abnormalities associated with the LS...
  11. Schurman S, Scheinman S. Inherited cerebrorenal syndromes. Nat Rev Nephrol. 2009;5:529-38 pubmed publisher
    ..The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive ..
  12. Pirruccello M, Swan L, Folta Stogniew E, De Camilli P. Recognition of the F&H motif by the Lowe syndrome protein OCRL. Nat Struct Mol Biol. 2011;18:789-95 pubmed publisher
    ..Our study predicts the existence of other OCRL binding partners and shows that the perturbation of OCRL interactions has a crucial role in disease...
  13. Grieve A, Daniels R, Sanchez Heras E, Hayes M, Moss S, Matter K, et al. Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. PLoS ONE. 2011;6:e24044 pubmed publisher
    ..A role of OCRL1 in junctions of polarized cells may explain the pattern of organs affected in Lowe Syndrome. ..
  14. Reilly D, Lewis R, Ledbetter D, Nussbaum R. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet. 1988;42:748-55 pubmed
    The Lowe oculocerebrorenal syndrome (OCRL) is characterized by congenital cataract, mental retardation, and defective renal tubular function...
  15. Nussbaum R, Orrison B, Jänne P, Charnas L, Chinault A. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997;99:145-50 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL; McKusick 309,000) is a rare X-linked disorder characterized by mental retardation, congenital cataracts, and Fanconi syndrome of the proximal renal tubules...
  16. Suchy S, Nussbaum R. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. 2002;71:1420-7 pubmed
    ..These findings point to a general mechanism to explain how this PIP(2) 5-phosphatase deficiency might produce the Lowe syndrome phenotype...
  17. Charnas L, Bernar J, Pezeshkpour G, Dalakas M, Harper G, Gahl W. MRI findings and peripheral neuropathy in Lowe's syndrome. Neuropediatrics. 1988;19:7-9 pubmed
    ..computerized tomography (CT) scan, and magnetic resonance imaging (MRI) scan on a 14-year-old boy with oculocerebrorenal syndrome with very mild renal disease...
  18. Leahey A, Charnas L, Nussbaum R. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993;2:461-3 pubmed
    A candidate gene, OCRL-1, for the oculocerebrorenal syndrome of Lowe (OCRL) has been identified via positional cloning strategies...
  19. Hoopes R, Shrimpton A, Knohl S, Hueber P, Hoppe B, Matyus J, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005;76:260-7 pubmed
    ..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised...
  20. Walton D, Katsavounidou G, Lowe C. Glaucoma with the oculocerebrorenal syndrome of Lowe. J Glaucoma. 2005;14:181-5 pubmed
    To further describe the glaucoma with the oculocerebrorenal syndrome of Lowe (OCRL) including the responsible filtration angle abnormalities and response to treatment.
  21. Jänne P, Suchy S, Bernard D, Macdonald M, Crawley J, Grinberg A, et al. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998;101:2042-53 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction...
  22. Erdogan F, Ismailogullari S, Soyuer I, Ferahbas A, Poyrazoglu H. Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. J Child Neurol. 2007;22:427-31 pubmed
    b>Oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder localized to Xq24-26.1. The phenotypic features of this disorder are Fanconi-type renal failure, mental retardation, and various eye abnormalities...
  23. Ooms L, Horan K, Rahman P, Seaton G, Gurung R, Kethesparan D, et al. The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease. Biochem J. 2009;419:29-49 pubmed publisher
    ..have revealed that the molecular basis of Lowe's syndrome is due to mutations in the 5-ptase OCRL (oculocerebrorenal syndrome of Lowe)...
  24. Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, Godi A, et al. OCRL controls trafficking through early endosomes via PtdIns4,5P?-dependent regulation of endosomal actin. EMBO J. 2011;30:4970-85 pubmed publisher
    ..Our data provide a molecular explanation for renal proximal tubular dysfunction in Lowe syndrome and highlight that tight control of PtdIns4,5P(2) and F-actin at the EEs is essential for exporting cargoes that transit this compartment...
  25. Swan L, Tomasini L, Pirruccello M, Lunardi J, De Camilli P. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Proc Natl Acad Sci U S A. 2010;107:3511-6 pubmed publisher
    Mutations of the inositol 5' phosphatase oculocerebrorenal syndrome of Lowe (OCRL) give rise to the congenital X-linked disorders oculocerebrorenal syndrome of Lowe and Dent disease, two conditions giving rise to abnormal kidney proximal ..
  26. Bokenkamp A, Bockenhauer D, Cheong H, Hoppe B, Tasic V, Unwin R, et al. Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr. 2009;155:94-9 pubmed publisher
    ..To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome...
  27. Lin T, Orrison B, Leahey A, Suchy S, Bernard D, Lewis R, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997;60:1384-8 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, mental retardation, and renal Fanconi syndrome...
  28. McCrea H, De Camilli P. Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology (Bethesda). 2009;24:8-16 pubmed publisher
    ..Many such enzymes are attractive targets for therapeutic interventions. Here, we review diseases linked to inheritable or somatic mutations of these enzymes...
  29. Suchy S, Lin T, Horwitz J, O Brien W, Nussbaum R. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. 1998;18:1117-21 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder with a severe phenotype characterized by congenital cataracts, renal tubular dysfunction and neurological deficits...
  30. 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;16:157-65 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked recessively inherited disease characterized by a severe pleiotropic phenotype including mental retardation, bilateral congenital cataract, and renal Fanconi syndrome...
  31. Dressman M, Olivos Glander I, Nussbaum R, Suchy S. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000;48:179-90 pubmed
    ..Ocrl1 is a PtdIns(4,5)P(2) 5-phosphatase that is deficient in the oculocerebrorenal syndrome of Lowe, a disorder characterized by defects in kidney and lens epithelial cells and mental retardation...
  32. Bothwell S, Chan E, Bernardini I, Kuo Y, Gahl W, Nussbaum R. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol. 2011;22:443-8 pubmed publisher
    The Lowe oculocerebrorenal syndrome is an X-linked disorder characterized by congenital cataracts, cognitive disability, and proximal tubular dysfunction...
  33. Bothwell S, Farber L, Hoagland A, Nussbaum R. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome. Mamm Genome. 2010;21:458-66 pubmed publisher
    The oculocerebrorenal syndrome of Lowe (OCRL; MIM #309000) is an X-linked human disorder characterized by congenital cataracts, mental retardation, and renal proximal tubular dysfunction caused by loss-of-function mutations in the OCRL ..
  34. Zhang X, Jefferson A, Auethavekiat V, Majerus P. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci U S A. 1995;92:4853-6 pubmed
    Lowe syndrome, also known as oculocerebrorenal syndrome, is caused by mutations in the X chromosome-encoded OCRL gene...
  35. Norden A, Lapsley M, Igarashi T, Kelleher C, Lee P, Matsuyama T, et al. Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. J Am Soc Nephrol. 2002;13:125-33 pubmed
    ..This defect would interfere with the normal endocytic function of megalin, result in losses of potential ligands into the urine, and produce tubular proteinuria...
  36. Zhang X, Hartz P, Philip E, Racusen L, Majerus P. Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem. 1998;273:1574-82 pubmed
    The protein product of the gene that when mutated is responsible for Lowe syndrome, or oculocerebrorenal syndrome (OCRL), is an inositol polyphosphate 5-phosphatase...
  37. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006;1:16 pubmed
    Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney...
  38. Attree O, Olivos I, Okabe I, Bailey L, Nelson D, Lewis R, et al. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992;358:239-42 pubmed
    Lowe's oculocerebrorenal syndrome (OCRL) is a human X-linked developmental disorder of unknown pathogenesis and has a pleiotropic phenotype affecting the lens, brain and kidneys...
  39. Noakes C, Lee G, Lowe M. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. Mol Biol Cell. 2011;22:606-23 pubmed publisher
    ..Our results identify IPIP27A and B as key players in endocytic trafficking and strongly suggest that defects in this process are responsible for the pathology of Lowe syndrome and Dent disease...
  40. Coon B, Hernandez V, Madhivanan K, Mukherjee D, Hanna C, Barinaga Rementeria Ramírez I, et al. The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Hum Mol Genet. 2012;21:1835-47 pubmed publisher
    ..This conceptual change in our understanding of the disease etiology may provide an alternative avenue for the development of therapies...
  41. Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I. Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet. 1998;77:348-55 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys...
  42. McCrea H, Paradise S, Tomasini L, Addis M, Melis M, De Matteis M, et al. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding. Biochem Biophys Res Commun. 2008;369:493-9 pubmed publisher
    ..Thus, binding to APPL1 helps localize OCRL at specific cellular sites, and disruption of this interaction may play a role in disease...
  43. Rudolph G, Kalpadakis P, Roschinger W, Haritoglou C, Kammerer S, Boergen K, et al. [Clinical and genetic results with reference to corneal alterations in Lowe-syndrome]. Ophthalmologe. 2004;101:595-9 pubmed
    ..Opacity of the cornea as well as alterations of the cornea seem to be a major problem in the course of the disease. ..
  44. Saricaoglu F, Demirtas F, Aypar U. Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi's syndrome. Paediatr Anaesth. 2004;14:530-2 pubmed
  45. Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci. 2012;37:134-43 pubmed publisher
    ..and mechanistic work on the 5-phosphatases with a focus on OCRL, whose loss of function results in oculocerebrorenal syndrome of Lowe and Dent 2 disease...
  46. Kohyama J, Niimura F, Kawashima K, Iwakawa Y, Nonaka I. Congenital fiber type disproportion myopathy in Lowe syndrome. Pediatr Neurol. 1989;5:373-6 pubmed
    ..The abnormal fiber type distribution may be responsible for the common finding of muscle hypotonia in this syndrome. ..
  47. Keilhauer C, Gal A, Sold J, Zimmermann J, Netzer K, Schramm L. [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]. Klin Monbl Augenheilkd. 2007;224:207-9 pubmed
    ..Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function. ..
  48. Ludwig M, Sethi S. Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction". Int Urol Nephrol. 2011;43:1107-15 pubmed publisher
    ..This review focuses on the new advances in the evaluation of proximal tubular dysfunction in various forms of Fanconi syndrome. ..
  49. Zhang Y, Wang F, Ding J, Yan H, Yang Y. Novel OCRL mutations in Chinese children with Lowe syndrome. World J Pediatr. 2013;9:53-7 pubmed publisher
    ..Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified. ..
  50. Craigen W, Graham B, Wong L, Scaglia F, Lewis R, Bonnen P. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013;14:83 pubmed publisher
    ..This study demonstrates the benefit of exome sequencing in providing molecular diagnosis to individuals with complex clinical presentations. ..
  51. Tsuru T, Yamagata T, Momoi M, Okabe I. Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis. Prenat Diagn. 1999;19:269-70 pubmed
    ..This is the first reported successful prenatal screening of OCRL using a comparison with defective mRNA of OCRL1 from affected subjects. ..
  52. Ke Y, He J, Fu W, Zhang Z. Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome. Nephrology (Carlton). 2012;17:20-5 pubmed publisher
    ..Our study suggests that the novel nonsense mutation (c.880G>T) in exon 10 and the novel insertion mutation (c.2626dupA) in exon 24 of the OCRL1 gene cause Lowe syndrome in these two Chinese families. ..
  53. Billcliff P, Noakes C, Mehta Z, Yan G, Mak L, Woscholski R, et al. OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates. Mol Biol Cell. 2016;27:90-107 pubmed publisher
    ..Our data indicate a role for OCRL1, via IPIP27A, in regulating the formation of pacsin 2-dependent trafficking intermediates and reveal a mechanism for coupling PtdIns(4,5)P2 hydrolysis with carrier biogenesis on endomembranes. ..
  54. Topaloglu R, Ludwig M, Celebi Tayfur A. Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. Turk J Pediatr. 2013;55:331-4 pubmed
    b>Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction...
  55. Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, et al. A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. J Hum Genet. 2006;51:1030-6 pubmed
    ..The description of this case adds Lowe syndrome to the list of X-linked disorders which may manifest the full phenotype in females because of the skewed X inactivation...
  56. Arron K, Oliver C, Moss J, Berg K, Burbidge C. The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes. J Intellect Disabil Res. 2011;55:109-20 pubmed publisher
    ..In this study we examined the prevalence of these behaviours and the associated person characteristics in seven genetic syndromes...
  57. Schneider J, Boltshauser E, Neuhaus T, Rauscher C, Martin E. MRI and proton spectroscopy in Lowe syndrome. Neuropediatrics. 2001;32:45-8 pubmed
    The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. We report two patients with typical intracranial lesions on MRI...
  58. Reinhard T. [Corneal changes in Lowe syndrome]. Ophthalmologe. 2004;101:1149; author reply 1149 pubmed
  59. Ruellas A, Pithon M, dos Santos R, de Oliveira D, de Oliveira A, de Oliveira M. Orthodontic treatment of a patient with Lowe syndrome. Am J Orthod Dentofacial Orthop. 2011;140:562-8 pubmed publisher
    ..The teeth were aligned and leveled with a fixed orthodontic appliance. Satisfactory results were obtained at the end of treatment, with substantial improvement in dental esthetics, occlusal function, and facial profile...
  60. Rusu C, Voloşciuc M, Covic M. [2 cases of Lowe syndrome]. Rev Med Chir Soc Med Nat Iasi. 2002;106:836-40 pubmed
    ..Both cases associate ocular, cerebral and renal defects. Molecular tests changed the recurrence risk in the first family...
  61. Sonmez F, Temoçýn A, Ozkan S, Akçanal B, Karaman C, Turkmen M, et al. Lowe syndrome with anal atresia: a possible variant of OCRL?. Pediatr Int. 2003;45:201-4 pubmed
  62. Onur M, Senol U, Mihci E, Luleci E. Tigroid pattern on magnetic resonance imaging in Lowe syndrome. J Clin Neurosci. 2009;16:112-4 pubmed publisher
    ..In this report we present a patient with Lowe syndrome with a tigroid pattern on cranial MRI, which has not been previously reported as an imaging feature of this syndrome...
  63. Nakabayashi H. [Lowe syndrome]. Nihon Rinsho. 2006;Suppl 3:468-72 pubmed