A novel mutation of the ceruloplasmin gene in a patient with heteroallelicceruloplasmin gene mutation (HypoCPGM)

We found a novel missense mutation in the ceruloplasmin (Cp) gene in a pati ent with the heteroallelic Cp gene mutation (HypoCPGM). The patient was a 7 2-year-old woman who came to our hospital with a 1-year history of postural tremor of the hands. The diagnosis was made based on serum Cp and copper r eadings which were about half the normal levels, as well as MRI tests of he r brain which showed charcteristics for hereditary ceruloplasmin deficiency (HCD), known to be caused by the homoallelic Cp gene mutation. Polymerase chain reaction (PCR)-direct sequencing analysis of the Cp gene of the patie nt revealed a novel point mutation, A to T, at nucleotide position 82 in Ex on 1. This mutation changes the Ile(28) codon ((A) under bar TT) to a Phe c odon ((T) under bar TT) (missense mutation). PCR-restriction analysis with restriction enzyme Tsp EI for the mutation revealed that both the patient a nd her son were heterozygotes for the mutation. (C) 2000 Tohoku University Medical Press.