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Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation
Author(s) -
Asami T,
Inano K,
Miida T,
Kikuchi T,
Uchiyama M
Publication year - 1997
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1997.tb08829.x
Subject(s) - medicine , endocrinology , cholesterylester transfer protein , mutation , high density lipoprotein , cholesterol , genetics , gene , lipoprotein , biology
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 highdensity lipoprotein cholesterol (HDLC) 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 HDLC levels in the patients (3/3). In addition, we found that their normal family members also had high serum HD‐LC 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.