THE LOWE-SYNDROME - CLINICAL FINDINGS AND THE DETECTION OF A GENE MUTATION IN A 4-YEAR OLD BOY

Cardial features of the oculocerebrorenal syndrome of Lowe (OCRL) are congenital cataract, mental retardation, hypotonia and renal tubular d ysfunction. The primary biochemical defect remains unknown. An inborn error of the inositol phosphate metabolism as a result of mutations wi thin the OCRL gene localized on the X-chromosome is discussed. Because of the medical history (congenital cataract, conspicuous family histo ry) and the presenting symptoms (typical facies, muscular hypotonia, m ental retardation, tubular dysfunction with metabolic acidosis) the cl inical diagnosis of the lowe syndrome was made in a 4-year-old-boy. In the mother lens opacities indicated the carrier status of this syndro me. Analysing the DNA for a mutation a guanine-adenine-transition was detected that was localized at the splice-junction region of the exon next to the last. In the mother this mutation was detected in a hetero zygous pattern. Discussion: The mutation detected is the molecular cau se of the symptoms in our patient with Lowe syndrome. Because of the s pecial localisation of this mutation it is possible, that the mutation causes an exchange of an amino acid or an uncorrect removal of the ex on, or a shifting of the encoding nucleotide sequence.