Clinicopathologic and molecular-pathologic approaches to Lowe's syndrome.

The oculocerebrorenal syndrome of Lowe (OCRL), an X-linked disorder involving 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 hampered comprehensive investigations into its clinical spectrum. Recently, the genetic and biochemical abnormalities responsible for this syndrome have been reported. We have synthesized a cDNA probe of the OCRL locus using a polymerase chain reaction, in which there is no homology of cDNA sequence with human inositol polyphosphate-5-phosphatase (HUMINP5P); 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 hybridization. This paper presents a new method that should be an easy and helpful tool for diagnosing OCRL and that contributes a new aspect of this syndrome through in situ hybridization histochemical staining of normal fetal tissues.

[1]  R. Nussbaum,et al.  The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase , 1992, Nature.

[2]  P. Majerus,et al.  Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase. , 1991, The Journal of biological chemistry.

[3]  B. Hogan,et al.  Developmental expression of 2ar (osteopontin) and SPARC (osteonectin) RNA as revealed by in situ hybridization , 1988, The Journal of cell biology.

[4]  P. Chomczyński,et al.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.

[5]  R. Nussbaum,et al.  Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. , 1987, The Journal of clinical investigation.

[6]  T. Kao,et al.  Isolation and characterization of rat and human glyceraldehyde-3-phosphate dehydrogenase cDNAs: genomic complexity and molecular evolution of the gene. , 1985, Nucleic acids research.

[7]  I. Allen,et al.  Oculo-cerebro-renal syndrome : Failure to demonstrate specific neuropathological abnormalities in four cases , 1982, Irish journal of medical science.

[8]  K. Bove,et al.  Pathological features of the eye in the oculocerebrorenal (Lowe) syndrome. , 1981, Journal of pediatric ophthalmology and strabismus.

[9]  M. A. Matin,et al.  Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan. , 2008, Journal of mental deficiency research.

[10]  Ores Ro.  Renal changes in oculo-cerebro-renal syndrome of Lowe. Electron microscopic study. , 1970 .

[11]  W. Tu,et al.  Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe. , 1968, The American journal of medicine.

[12]  V. Abbassi,et al.  Oculo-Cerebro-Renal Syndrome: A Review , 1968 .

[13]  V. Curtin,et al.  Ocular pathology in the oculo-cerebro-renal syndrome of Lowe. , 1967, American journal of ophthalmology.

[14]  L. Rowland,et al.  Lowe's syndrome , 1966, Neurology.

[15]  G. Donnell,et al.  THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE. , 1965, American journal of diseases of children.

[16]  G. Biserte,et al.  [Clinical, genetic & biological study of the Lowe-Bickel syndrome]. , 1957, Pediatrie.

[17]  H. Bickel,et al.  Hyperamino-aciduria in Lignac-Fanconi Disease, in Galactosaemia and in an Obscure Syndrome , 1954, Archives of disease in childhood.

[18]  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.