A NONSENSE MUTATION OF THE CERULOPLASMIN GENE IN HEREDITARY CERULOPLASMIN DEFICIENCY WITH DIABETES-MELLITUS

A novel mutation of the ceruloplasmin (Cp) gene was found in a patient with hereditary ceruloplasmin deficiency (HCD) with diabetes mellitus (DM). The patient had been treated for DM for about 13 years, and the n his illness was diagnosed as HCD. One year later, he was found dead in his home. A decrease in insulin-immunostained cells was observed in the islets of the patient's pancreas tissue, which accounted for his DM. The polymerase chain reaction (PCR)-direct sequencing analysis of the Cp gene of his daughter revealed a novel point mutation, G to A, a t nucleotide 2630 in exon 15. This mutation changes the Trp(858) codon (TGG) to a stop codon (TAG) (nonsense mutation). PCR-restriction anal ysis for the mutation revealed that the patient as well as his daughte r was a heterozygote for the mutation, indicating that the patient was a compound heterozygote. (C) 1995 academic Press, Inc.