A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.

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.

[1]  P. Willems,et al.  A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome , 2011, Journal of clinical research in pediatric endocrinology.

[2]  Z. Gucev,et al.  Clinical and laboratory features of Macedonian children with OCRL mutations , 2011, Pediatric Nephrology.

[3]  E. Alp,et al.  Ricketsial Findings: Presenting As Features of Oculocerebrorenal Syndrome (Lowe Syndrome): Case Report , 2009 .

[4]  V. Tasic,et al.  Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. , 2008, Clinical journal of the American Society of Nephrology : CJASN.

[5]  H. Cheong,et al.  Renal manifestations of Dent disease and Lowe syndrome , 2008, Pediatric Nephrology.

[6]  H. Poyrazoğlu,et al.  Different Seizure Types and Skin Lesions in Oculocerebrorenal Syndrome of Lowe , 2007, Journal of child neurology.

[7]  Jiucheng He,et al.  Corneal keloid in Lowe syndrome. , 2005, Journal of pediatric ophthalmology and strabismus.

[8]  R. Nussbaum,et al.  Unusual renal features of Lowe syndrome in a mildly affected boy. , 2000, American journal of medical genetics.

[9]  P. Jouk,et al.  Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. , 1999, American journal of human genetics.

[10]  R. Nussbaum,et al.  Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. , 1998, Molecular genetics and metabolism.

[11]  R. Nussbaum,et al.  Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. , 1997, American journal of human genetics.

[12]  J. Ono,et al.  MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. , 1996, Pediatric neurology.

[13]  M. Terrey,et al.  Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. , 1952, A.M.A. American journal of diseases of children.