Cited by 463Neurological diseases and metabolismIron Metabolism and DisordersTrace Elements in Health

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A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

Yoshida, Kunihiro, Furihata, Kenichi, Takeda, Shin'ichi, Nakamura, Akinori, Yamamoto, Kanji, Morita, Hiroshi, Hiyamuta, Shuichi, Ikeda, Shu-ichi, Shimizu, Norikazu, Yanagisawa, Nobuo·1995·Nature Genetics

DOI 10.1038/ng0395-267

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Abstract

We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. A post-mortem study of the proband revealed excessive iron deposition mainly in the brain, liver and pancreas. The G to A transition at the splice acceptor site introduces a premature termination codon at the amino acid position 991 by defective splicing, thereby truncating the carboxyl terminus of Cp in affected individuals. We conclude that the mutation in the Cp gene is associated with systemic hemosiderosis in humans.

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Authors: Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Shimizu, N., & Yanagisawa, N.
Affiliations: Shinshu University (JP)
National Center of Neurology and Psychiatry (JP)
Idemitsu Kosan (Japan) (JP)
Toho University (JP)
ORCID: Yoshida, Kunihiro
Furihata, Kenichi
Takeda, Shin'ichi
Nakamura, Akinori
Morita, Hiroshi
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1995-03
Volume: 9
Issue: 3
Pages: 267-272
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0395-267
OpenAlex: W2029443758
Cited by: 463
References: 48
Citations by year: 2026: 3 · 2025: 3 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 16 · 2020: 8 · 2019: 17 · 2018: 10 · 2017: 11 · 2016: 12 · 2015: 8 · 2014: 17 · 2013: 11 · 2012: 9
FWCI: 15.77
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
Health Sciences › Nursing › Nutrition and Dietetics › Trace Elements in Health
Keywords: ceruloplasmin, aceruloplasminemia, genetic mutations, splice site mutation, premature stop codon, iron accumulation, extrapyramidal disorders, cerebellar ataxia, diabetes mellitus
MeSH terms: Amino Acid Sequence, Base Sequence, Ceruloplasmin, DNA Mutational Analysis, Female, Genotype, Hemosiderosis, Humans, Liver, Male, Molecular Sequence Data, Mutation, Pedigree, RNA, Polymerase Chain Reaction, Alternative Splicing, DNA Primers, DNA, Complementary

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A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

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