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3. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Author

Aminoff, Maria, primary, Carter, Jo Ellen, additional, Chadwick, Robert B., additional, Johnson, Cheryl, additional, Gräsbeck, Ralph, additional, Abdelaal, Mohamed A., additional, Broch, Harald, additional, Jenner, Lasse B., additional, Verroust, Pierre J., additional, Moestrup, Soeren K., additional, Chapelle, Albert de la, additional, and Krahe, Ralf, additional

Published
1999
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4. Megalin Antagonizes Activation of the Parathyroid Hormone Receptor

Author

Hilpert, Jan, primary, Nykjaer, Anders, additional, Jacobsen, Christian, additional, Wallukat, Gerd, additional, Nielsen, Rikke, additional, Moestrup, Soeren K., additional, Haller, Hermann, additional, Luft, Friedrich C., additional, Christensen, Erik I., additional, and Willnow, Thomas E., additional

Published
1999
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5. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Author

Aminoff, Maria, Carter, Jo Ellen, Chadwick, Robert B., Johnson, Cheryl, Gräsbeck, Ralph, Abdelaal, Mohamed A., Broch, Harald, Jenner, Lasse B., Verroust, Pierre J., Moestrup, Soeren K., Chapelle, Albert de la, and Krahe, Ralf

Subjects
GENETIC mutation, ANEMIA, GENETICS
Abstract

Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms that may be the only manifestations. At the cellular level, MGA1 is characterized by selective intestinal vitamin B12 (B12, cobalamin) malabsorption. MGA1 occurs worldwide, but its prevalence is higher in several Middle Eastern countries and Norway, and highest in Finland (0.8/100,000). We previously mapped the MGA1 locus by linkage analysis in Finnish and Norwegian families to a 6-cM region on chromosome 10p12.1 (ref. 8). A functional candidate gene encoding the intrinsic factor (IF)-B12 receptor, cubilin, was recently cloned; the human homologue, CUBN, was mapped to the same region. We have now refined the MGA1 region by linkage disequilibrium (LD) mapping, fine-mapped CUBN and identified two independent disease-specific CUBN mutations in 17 Finnish MGA1 families. Our genetic and molecular data indicate that mutations in CUBN cause MGA1. [ABSTRACT FROM AUTHOR]

Published
1999
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