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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
Proceedings of the National Academy of Sciences of the United States of America, Volume 102, No. 11, Year 2005
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Description
Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Gräsbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN. A genome-wide search for linkage followed by mutational analysis of candidate genes was performed in five of these families. A region in chromosome 11 showed evidence of linkage in four families. The gastric IF (GIF) gene located in this region harbored homozygous nonsense and missense mutations in these four families and in three additional families. The disease in these cases therefore should be classified as hereditary IF deficiency. Clinically, these patients resembled those with typical IGS; radiocobalamin absorption tests had been inconclusive regarding the nature of the defect. In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice. © 2005 by The National Academy of Sciences of the USA.
Authors & Co-Authors
Tanner, Stephan M.
United States, Columbus
The Ohio State University Comprehensive Cancer Center
Li, Zhongyuan
United States, Columbus
The Ohio State University Comprehensive Cancer Center
Perko, James D.
United States, Columbus
The Ohio State University Comprehensive Cancer Center
Öner, Cihan
Turkey, Ankara
Hacettepe Üniversitesi
Çetin, Mualla
Turkey, Ankara
Hacettepe Üniversitesi
Altay, Çiĝdem A.
Turkey, Ankara
Hacettepe Üniversitesi
Yurtsever, Zekiye
Turkey, Ankara
Hacettepe Üniversitesi
David, Karen
United States, New York
Metropolitan Hospital Center
Faivre, Laurence Olivier
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Ismail, Essam A.R.
Kuwait, Safat
Farwania Hospital
Gräsbeck, Ralph
Finland, Helsinki
Minerva Foundation Institute for Medical Research Helsinki
De-La-Chapelle, Albert Dela
United States, Columbus
The Ohio State University Comprehensive Cancer Center
United States, Columbus
The Ohio State University
Statistics
Citations: 92
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1073/pnas.0500517102
ISSN:
00278424
Research Areas
Genetics And Genomics