PMID: 9632163Jun 19, 1998Paper

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes

American Journal of Medical Genetics
T KawanoI Matsuda

Abstract

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified by positional cloning and its product OCRL-1 protein was shown to be a phosphatidylinositol 4,5-bisphosphate [PtdIns(4,5)P2] 5-phosphatase localized to the Golgi apparatus. We describe three mutations in OCRL1, one in a patient with severe phenotype and two in patients with moderate phenotype (degree of mental retardation and musculoskeletal abnormalities). The patient with severe phenotype had a G-to-A transition at nucleotide (nt) 1,739, causing an Arg-to-Gln substitution at amino acid 577, and one patient with moderate phenotype had a C-to-G transversion at nt 1,812, leading to a His-to-Gln substitution at amino acid 601. Both Arg-577 and His-601 are encoded by exon 15 and are probably important for proper function of this protein, since these are conserved in various enzymes catalyzing dephosphorylation of inositol compounds. In the other patient with the moderate phenotype, there was a G-to-A transition at nt 2,797 located at th...Continue Reading

Citations

Feb 6, 2010·Proceedings of the National Academy of Sciences of the United States of America·Laura E SwanPietro De Camilli
Jun 15, 2011·Nature Structural & Molecular Biology·Michelle PirruccelloPietro De Camilli
Jul 26, 2012·FEBS Letters·Sarah E ConduitChristina A Mitchell
Jul 8, 2009·Progress in Lipid Research·Takehiko SasakiAkira Suzuki
Jun 30, 2009·The Journal of Pediatrics·Arend BökenkampMichael Ludwig
Dec 13, 2006·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Boris UtschMichael Ludwig
Apr 24, 2003·Pediatrics International : Official Journal of the Japan Pediatric Society·Ferah SönmezGülten Inan
Feb 12, 2004·Pediatric Dermatology·Maithily A NandedkarMeenakshi A Nandedkar
Dec 5, 2006·European Journal of Medical Genetics·Maria AddisMilena Cau
Nov 4, 2016·World Journal of Pediatrics : WJP·Yan GaoZhi-Ying Ou
Mar 13, 2014·The Tohoku Journal of Experimental Medicine·Keisuke SugimotoTsukasa Takemura

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