Estimation of the gene frequency of aceruloplasminemia in Japan

Aceruloplasminemia is a newly recognized autosomal recessive disorder of ir on metabolism that causes neurodegeneration of the retina and basal, gangli a as well as diabetes mellitus. We screened the serum ceruloplasmin concent rations of 4,990 healthy adult individuals. Subsequent sequence determinati on of the mutant alleles showed three mutations (5-bp insertion in exon 7, one heterozygote, one-bp deletion in exon 14, two heterozygotes, nonsense m utation in exon 15, one homozygote and two heterozygotes). The gene frequen cy was 70/100,000. In Japan, the incidence of aceruloplasminemia was estima ted to be approximately 1 per 2,000,000 in the case of nonconsanguineous ma rriages.