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A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy. 2000
T Ogawa, and
K Maruyama, and
H Hattori, and
H Arai, and
I Kondoh, and
T Egashira, and
T Watanabe, and
Y Kobayashi, and
A Morikawa
Department of Pediatrics, Gunma University School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511 Japan.
We have previously reported an 8-year-old girl with lipoprotein glomerulopathy. Assessment of serum apolipoprotein E (apo E) in this patient showed a discrepancy between phenotype and genotype, suggesting that she may have a variant of apo E. The present report concerns our analysis of DNA sequences of the apo E gene in the patient: nine base pairs were found to be deleted from exon 4. This mutation would appear to encode a new apo E variant lacking three amino acids. This variant may be associated with the pathogenesis of lipoprotein glomerulopathy.
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