2 FAMILIES OF LOWE OCULOCEREBRORENAL SYNDROME WITH ELEVATED SERUM HDLCHOLESTEROL LEVELS AND CETP GENE MUTATION

The ocuolocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessiv e disorder which is characterized by renal tubular dysfunction, congen ital cataracts, and cognitive impairment. In a review article by Charn as et al. (N Engl J Med 1991; 324: 1318-25), hypercholesterolemia, due to elevated high-density lipoprotein cholesterol(HDL-C) levels, was d escribed as being highly prevalent in OCRL patients. This report promp ted us to examine three OCRL children in two unrelated families and we confirmed the high prevalence of high serum HDL-C levels in the patie nts (3/3). In addition, we found that their normal family members also had high serum HDL-C levels (5/7). Analysis of cholesteryl ester tran sfer protein (CETP) genes, which are now recognized as one of factors increasing serum HDLC levels, revealed the D442G mutation in exon 15 i n 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, f urther studies, based on larger numbers of subjects, are needed to con form these findings.