A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)

British Journal of Haematology

Volumn 160, Issue 4, 2013, Pages 564-565

  Jaspers, Aurélie ^a   Caers, Jo ^a   Le Gac, Gerald ^b   Ferec, Claude ^b   Beguin, Yves ^a   Fillet, Georges ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b BREST UNIVERSITY HOSPITAL   (France)

Author keywords

Anaemia; Genetics; Iron deficiency

Indexed keywords

FERROUS ION; HEMOGLOBIN; IRON; MATRIPTASE; MATRIPTASE 2; TRANSFERRIN; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; BONE MARROW BIOPSY; C1R C1S URCHIN EMBRYONIC GROWTH FACTOR BONE MORPHOGENETIC PROTEIN 1 DOMAIN; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DRUG RESPONSE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOSITY; HUMAN; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON RESISTANT IRON DEFICIENCY ANEMIA; IRON THERAPY; LETTER; MALABSORPTION; MATRIPTASE 2 GENE; MEAN CORPUSCULAR VOLUME; MICROCYTIC ANEMIA; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MODIFICATION; THROMBOCYTHEMIA; TRANSFERRIN BLOOD LEVEL;

ANEMIA, IRON-DEFICIENCY; FEMALE; HETEROZYGOTE; HUMANS; MEMBRANE PROTEINS; MUTATION; SERINE ENDOPEPTIDASES;

EID: 84873078239     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12147     Document Type: Letter

References (9)

1. De Falco, L., Totaro, F., Nai, A., Pagani, A., Girelli, D., Silvestri, L., Piscopo, C., Campostrini, N., Dufour, C., Al Manjomi, F., Minkov, M., Van Vuurden, D.G., Feliu, A., Kattamis, A., Camaschella, C. & Iolascon, A. (2010) Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Human Mutation, 31, E1390-E1405.
2. Finberg, K.E., Heeney, M.M., Campagna, D.R., Aydinok, Y., Pearson, H.A., Hartman, K.R., Mayo, M.M., Samuel, S.M., Strouse, J.J., Markianos, K., Andrews, N.C. & Fleming, M.D. (2008) Mutations in TMPRSS6 cause iron-refractory iron defeciency anemia (IRIDA). Nature Genetics, 40, 569-571.
3. Maxson, J.E., Chen, J., Enns, C.A. & Zhang, A.S. (2010) Matriptase-2- and proprotein convertase-cleaved forms of hemojuvelin have different roles in the down-regulation of hepcidin expression. The Journal of Biological Chemistry, 285, 39021-39028.
4. Melis, M.A., Cau, M., Congiu, R., Sole, G., Barella, S., Cao, A., Westerman, M., Cazzola, M. & Galanello, R. (2008) A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica, 93, 1473-1479.
5. Pellegrino, R.M., Coutinho, M., D'Ascola, D., Lopes, A.M., Palmieri, A., Carnuccio, F., Costa, M., Zecchina, G., Saglio, G., Costa, E.l., Barbot, J., Porto, G., Pinto, J.P. & Roetto, A. (2012) Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form. British Journal of Haematology, 158, 668-672.
6. Ramsay, A.J., Quesada, V., Sanchez, M., Garabaya, C., Sard, M.P., Baiget, M., Remacha, A., Velasco, G. & L¢pez-Ot¡n, C. (2009) Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Human Molecular Genetics, 18, 3673-3683.
7. Silvestri, L., Pagani, A., Nai, A., De Domenico, I., Kaplan, J. & Camaschella, C. (2008) The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metabolism, 8, 502-511.
8. Silvestri, L., Guillem, F., Pagani, A., Nai, A., Oudin, C., Silva, M., Toutain, F., Kannengiesser, C., Beaumont, C., Camaschella, C. & Grandchamp, B. (2009) Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood, 113, 5605-5608.
9. Tchou, I., Diepold, M., Pilotto, P.A., Swinkels, D., Neerman-Arbez, M. & Beris, P. (2009) Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. European Journal of Haematology, 83, 595-602.