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Estimation of the gene frequency of aceruloplasminemia in Japan

From the First Department of Medicine (Drs. Miyajima, Kohno, and Takahashi), Laboratory Medicine (Drs. Yonekawa, and Kanno), Hamamatsu University School of Medicine, Hamamatsu, Japan.

Address correspondence and reprint requests to Dr. Hiroaki Miyajima, The First Department of Medicine, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu 431-3192, Japan.

Aceruloplasminemia is a newly recognized autosomal recessive disorder of iron metabolism that causes neurodegeneration of the retina and basal ganglia as well as diabetes mellitus. We screened the serum ceruloplasmin concentrations of 4,990 healthy adult individuals. Subsequent sequence determination of the mutant alleles showed three mutations (5-bp insertion in exon 7, one heterozygote, one-bp deletion in exon 14, two heterozygotes, nonsense mutation in exon 15, one homozygote and two heterozygotes). The gene frequency was 70/100,000. In Japan, the incidence of aceruloplasminemia was estimated to be approximately 1 per 2,000,000 in the case of nonconsanguineous marriages.

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