title: A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate (PIP2P) 5-phosphatase, is responsible for the phenotypic characteristics of the disease. We report a 22-year-old male with a severe form of OCRL syndrome, diagnosed on the basis of congenital cataracts, severe psychomotor and cognitive deficits, and renal tubular dysfunction without Fanconi syndrome. The patient presented low molecular weight proteinuria, nephrocalcinosis, nephrolithiasis, rickets, and growth retardation and developed progressive renal failure. Genetic analysis showed a novel and de novo deletion of exons 10-13 in the OCRL1 gene.
authors: Servicio de Nefrología, Hospital Universitario La Paz. IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain, rpeces.hulp@salud.madrid.org.
authors: Ramón
authors: R
authors: Peces
authors: Carlos
authors: C
authors: Peces
authors: Erika
authors: E
authors: de Sousa
authors: Cristina
authors: C
authors: Vega
authors: Rafael
authors: R
authors: Selgas
authors: Julián
authors: J
authors: Nevado
mesh_terms: D001483:Base Sequence; D005091:Exons; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017384:Sequence Deletion; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human