Novel OCRL mutations in Chinese children with Lowe syndrome

World Journal of Pediatrics

Volumn 9, Issue 1, 2013, Pages 53-57

  Zhang, Yan Qin ^a   Wang, Fang ^a   Ding, Jie ^a   Yan, Hui ^a   Yang, Yan Ling ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

cataract; Dent disease 2; Lowe syndrome; mutations; OCRL

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHINESE; CONGENITAL CATARACT; EXON; EYE MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; KIDNEY MALFORMATION; LOWE SYNDROME; MALE; MISSENSE MUTATION; NERVOUS SYSTEM MALFORMATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RETROSPECTIVE STUDY; RICKETS;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; HUMANS; INFANT; MALE; MUTATION; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; RETROSPECTIVE STUDIES;

EID: 84873426380     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-013-0406-4     Document Type: Article

References (19)

1. Loi M. Lowe syndrome. Orphanet J Rare Dis 2006;1:16.
2. Lowe CU, Terrey M, Maclachlan EA. Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity. AMA Am J Dis Child 1952;83:164-184.
3. Tasic V, Lozanovski VJ, Korneti P, Ristoska-Bojkovska N, Sabolic-Avramovska V, Gucev Z, et al. Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol 2011;26:557-562.
4. Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. SourceGene Reviews. Seattle: University of Washington, 2001. www.ncbi.nlm.nih.gov/books/NBK1480/ (accessed April 5, 2012).
5. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, et al. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992;358:239-242.
6. Suchy SF, Olivos-Glander IM, Nussabaum RL. Lowe Syndrome, a deficiency of a phosphatidylinositol 4, 5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 1995;4:2245-2250.
7. Devuyst O, Thakker RV. Dent's disease. Orphanet J Rare Dis 2010;5:28.
8. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab 1998;64:58-61. (Pubitemid 28453319)
9. Maia ML, do Val ML, Genzani CP, Fernandes FA, de Andrade MC, Carvalhaes JT. Lowe syndrome: report of five cases. J Bras Nefrol 2010;32:216-222.
10. Ke YH, He JW, Fu WZ, Zhang ZL. Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome. Nephrology (Carlton) 2012;17:20-25.
11. McCrea HJ, Paradise S, Tomasini L, Addis M, Melis MA, De Matteis MA, et al. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding. Biochem Biophys Res Commun 2008;369:493-499.
12. 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;12:2449-2456. (Pubitemid 37220409)
13. Luo L. Rho GTPases in neuronal morphogenesis. Nat Rev Neurosci 2000;1:173-180.
14. Takai Y, Sasaki T, Matozaki T. Small GTP-binding proteins. Physiol Rev 2001;81:153-208. (Pubitemid 32098004)
15. Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, et al. The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Hum Mol Genet 2012;21:1835-1847.
16. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet 2005;76:260-267. (Pubitemid 40129552)
17. Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, et al. Dent-2 disease: A mild variant of Lowe syndrome. J Pediatr 2009;155:94-99.
18. 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;32:379-388.
19. Lozanovski VJ, Ristoska-Bojkovska N, Korneti P, Gucev Z, Tasic V. OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts. World J Pediatr 2011;7:280-283.