title: [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].
abstract: The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defect in early embryogenesis. We report on a 35-year-old patient with a mild Lowe syndrome phenotype including incomplete lenticular opacities. Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function.
authors: Augenklinik, Universität Würzburg. ckeilhauer@yahoo.com
authors: C N
authors: CN
authors: Keilhauer
authors: A
authors: A
authors: Gal
authors: J E
authors: JE
authors: Sold
authors: J
authors: J
authors: Zimmermann
authors: K-O
authors: KO
authors: Netzer
authors: L
authors: L
authors: Schramm
mesh_terms: D000328:Adult; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human