A novel OCRL gene mutation in a child with lowe syndrome

Oculocerebrorenal (OCRL) syndrome, also called Lowe syndrome, is a rare genetic disease caused by mutations in the OCRL gene, which is located at Xq25-26 and encodes inositol polyphosphatidylinositol-4,5-biphosphate (PIP₂) 5-phosphatase in the Golgi apparatus. The syndrome mostly affects Caucasian or Asian males, and is characterised by bilateral congenital cataracts, renal Fanconi syndrome with proteinuria, albuminuria, aminoaciduria, and phosphaturia, as well as neurologic features such as growth and mental retardation, seizures, and behavioral stereotypes. Here, we describe a 4-year-old boy diagnosed with Lowe syndrome on the basis of congenital cataracts, language delay, and renal tubular dysfunction. On genetic analysis, the patient was found to carry a novel mutation that causes an amino acid substitution in exon 11 of the OCRL gene.