title: A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
abstract: Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for Lowe syndrome and encodes an inositol polyphosphate-5-phosphatase. We present an 11-year-old boy with Lowe syndrome, who had a de novo frameshift mutation in exon 22 that resulted in amino acid substitution and premature codon termination at position 788. This is a new mutation involving the OCRL1 gene in a patient with Lowe syndrome of Turkish origin and expands the mutation spectrum in this disorder.
authors.affiliation: Clinics of Pediatrics, Tepecik Training and Research Hospital, İzmir, Turkey. dralikanik@hotmail.com
authors.forename: Ali
authors.initials: A
authors.lastname: Kanık
authors.forename: Belde
authors.initials: B
authors.lastname: Kasap-Demir
authors.forename: Rüya
authors.initials: R
authors.lastname: Ateşli
authors.forename: Kayı
authors.initials: K
authors.lastname: Eliaçık
authors.forename: Onder
authors.initials: O
authors.lastname: Yavaşcan
authors.forename: Mehmet
authors.initials: M
authors.lastname: Helvacı
mesh_terms: D002648:Child; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D010808:Physical Examination; D011859:Radiography; D014421:Turkey
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human