A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy.
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.
Ogawa
T
T
Department of Pediatrics, Gunma University School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511 Japan.
Maruyama
K
K
Hattori
H
H
Arai
H
H
Kondoh
I
I
Egashira
T
T
Watanabe
T
T
Kobayashi
Y
Y
Morikawa
A
A
D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA
D001057:Apolipoproteins E