title: Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.
abstract: The ocuolocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder which is characterized by renal tubular dysfunction, congenital cataracts, and cognitive impairment. In a review article by Charnas et al. (N Engl J Med 1991; 324: 1318-25), hypercholesterolemia, due to elevated high-density lipoprotein cholesterol (HDL-C) levels, was described as being highly prevalent in OCRL patients. This report prompted us to examine three OCRL children in two unrelated families and we confirmed the high prevalence of high serum HDL-C levels in the patients (3/3). In addition, we found that their normal family members also had high serum HDL-C levels (5/7). Analysis of cholesteryl ester transfer protein (CETP) genes, which are now recognized as one of factors increasing serum HDLC levels, revealed the D442G mutation in exon 15 in 5 of 10 family members (1/3 of OCRL patients and 4/7 healthy family members), and no mutation of intron 14 G(+1)-to-A. The detected D442G mutation may be one of the causes in our two OCRL families; however, further studies, based on larger numbers of subjects, are needed to confirm these findings.
authors.affiliation: Department of Pediatrics, School of Medicine, Niigata University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Asami
authors.forename: K
authors.initials: K
authors.lastname: Inano
authors.forename: T
authors.initials: T
authors.lastname: Miida
authors.forename: T
authors.initials: T
authors.lastname: Kikuchi
authors.forename: M
authors.initials: M
authors.lastname: Uchiyama
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL / Q000097:blood*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006023:Glycoproteins; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015995:Prevalence
chemical_list: C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D006023:Glycoproteins