CLINICOPATHOLOGICAL AND MOLECULAR-PATHOLOGICAL APPROACHES TO LOWES SYNDROME

The oculocerebrorenal syndrome of Lowe(OCRL), an X-linked disorder inv olving several organ systems, including the eyes, nervous system, and kidneys, is often difficult to diagnose because few pathologic data of diagnostic features about OCRL are available; and its rarity has hamp ered comprehensive investigations into its clinical spectrum. Recently , the genetic and biochemical abnormalities responsible for this syndr ome have been reported. We have synthesized a dDNA probe of the OCRL l anes wing a polymerase chain reaction, in which there is no homology o f cDNA sequence with human inositol polyphosphate-5-phosphatase (HUMIN P5P); we have taken a genetic approach to diagnose this disorder in a 10-year-old male by using Northern blotting and have demonstrated the expression of mRNA in human tissues of a 17-week fetus by in situ hybr idization. This paper presents a new method that should be an easy and helpful fool for diagnosing OCRL and that contributes a new aspect of this syndrome through in situ hybridization histochemical staining of normal fetal tissues.