Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases

Phytosterolemia is one of the genetic disorders causing hypercholesterolemia and atherosclerosis together with the accumulation of plant sterol in plasma and tissues. The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia. We performed g...

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Bibliographic Details
Published in:Clinica chimica acta 2009-03, Vol.401 (1), p.165-169
Main Authors: Togo, Masako, Hashimoto, Yoshiaki, Iso-O, Naoyuki, Kurano, Makoto, Hara, Masumi, Kadowaki, Takashi, Koike, Kazuhiko, Tsukamoto, Kazuhisa
Format: Article
Language:English
Subjects:
ABCG5
Adult
Atherosclerosis - blood
Atherosclerosis - genetics
ATP Binding Cassette Transporter, Sub-Family G, Member 5
ATP Binding Cassette Transporter, Sub-Family G, Member 8
ATP-Binding Cassette Transporters - genetics
Exons - genetics
Female
Humans
Hypercholesterolemia - blood
Hypercholesterolemia - genetics
Lipoproteins - genetics
Middle Aged
Mutation
Phytosterolemia
Phytosterols - blood
Phytosterols - metabolism
Point mutation
Tandem repeat
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Summary:Phytosterolemia is one of the genetic disorders causing hypercholesterolemia and atherosclerosis together with the accumulation of plant sterol in plasma and tissues. The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia. We performed genetic analyses on 2 Japanese phytosterolemia patients. We identified 2 mutations in the ABCG5 gene in these patients. The first patient was homozygous for a novel mutation, which was a 19-base pair tandem repeat insertion in exon 7, leading to a premature termination at codon 288. The second patient was a compound heterozygote; one of the mutations was the same as that found in the first patient, while the other mutation was a C to T substitution in exon 10, resulting in a premature termination at codon 446 (R446X). No other mutation was found in the ABCG5 and ABCG8 genes. This result was concordant with previous observations that found most Asian phytosterolemia patients possessed mutations in the ABCG5 gene, and the site of the novel mutation was completely different from these previous reports, necessitating the extensive analyses for phytosterolemia.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2008.10.026