A Novel Mutation of the Ceruloplasmin Gene in a Patient with Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

• Published in: The Tohoku Journal of Experimental Medicine Vol. 191; no. 3; pp. 119 - 125
• Main Authors: Daimon, Makoto, Susa, Shinji, Ohizumi, Toshihide, Moriai, Satoko, Kawanami, Toru, Hirata, Akihiko, Yamaguchi, Hiroshi, Ohnuma, Hiroshi, Igarashi, Masahiko, Kato, Takeo
• Format: Journal Article
• Language: English
• Published: Japan Tohoku University Medical Press 01-07-2000
• Subjects: Aged; Alleles; Brain - pathology; ceruloplasmin; Ceruloplasmin - deficiency; Ceruloplasmin - genetics; Ceruloplasmin - metabolism; Echo-Planar Imaging - methods; Female; gene mutation; HCD; Heterozygote; Humans; HypoCPGM; Male; missense mutation; Mutation, Missense
• ISSN: 0040-8727; 1349-3329
• DOI: 10.1620/tjem.191.119

We found a novel missense mutation in the ceruloplasmin (Cp) gene in a patient with the heteroallelic Cp gene mutation (HypoCPGM). The patient was a 72-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 readings which were about half the normal levels, as well as MRI tests of her 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 patient revealed a novel point mutation, A to T, at nucleotide position 82 in Exon 1. This mutation changes the Ile28 codon (ATT) to a Phe codon (TTT) (missense mutation). PCR-restriction analysis with restriction enzyme Tsp EI for the mutation revealed that both the patient and her son were heterozygotes for the mutation.