A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

被引：18

作者：

Edison, Eunice S. ^{[1
]}

Athiyarath, Rekha ^{[1
]}

Rajasekar, Thirugnanam ^{[1
]}

Westerman, Mark ^{[2
]}

Srivastava, Alok ^{[1
]}

Chandy, Mammen ^{[1
]}

机构：

[1] Christian Med Coll & Hosp, Dept Haematol, Vellore, Tamil Nadu, India

[2] Intrins Life Sci, La Jolla, CA USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2009年 / 147卷 / 05期

关键词：

TMPRSS6; iron deficiency; India; MATRIPTASE-2; TMPRSS6; MICROCYTIC ANEMIA; HEPCIDIN; PATIENT;

D O I：

10.1111/j.1365-2141.2009.07879.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：766 / 769

页数：4

共 10 条

[1] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload [J].

Beaumont, C ;

Delaunay, J ;

Hetet, G ;

Grandchamp, B ;

de Montalembert, M ;

Tchernia, G .

BLOOD, 2006, 107 (10) :4168-4170

[2] The serine protease TMPRSS6 is required to sense iron deficiency [J].

Du, Xin ;

She, Ellen ;

Gelbart, Terri ;

Truksa, Jaroslav ;

Lee, Pauline ;

Xia, Yu ;

Khovananth, Kevin ;

Mudd, Suzanne ;

Mann, Navjiwan ;

Moresco, Eva Marie Y. ;

Beutler, Ernest ;

Beutler, Bruce .

SCIENCE, 2008, 320 (5879) :1088-1092

[3] Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) [J].

Finberg, Karin E. ;

Heeney, Matthew M. ;

Campagna, Dean R. ;

Aydinok, Yesim ;

Pearson, Howard A. ;

Hartman, Kip R. ;

Mayo, Mary M. ;

Samuel, Stewart M. ;

Strouse, John J. ;

Markianos, Kyriacos ;

Andrews, Nancy C. ;

Fleming, Mark D. .

NATURE GENETICS, 2008, 40 (05) :569-571

[4] Immunoassay for human serum hepcidin [J].

Ganz, Tomas ;

Olbina, Gordana ;

Girelli, Domenico ;

Nemeth, Elizabeta ;

Westerman, Mark .

BLOOD, 2008, 112 (10) :4292-4297

[5] Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency [J].

Guillem, Flavia ;

Lawson, Sarah ;

Kannengiesser, Caroline ;

Westerman, Mark ;

Beaurnont, Carole ;

Grandchamp, Bernard .

BLOOD, 2008, 112 (05) :2089-2091

[6] A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron [J].

Melis, Maria Antonietta ;

Cau, Milena ;

Congiu, Rita ;

Sole, Gabriella ;

Barella, Susanna ;

Cao, Antonio ;

Westerman, Mark ;

Cazzola, Mario ;

Galanello, Renzo .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2008, 93 (10) :1473-1479

[7] Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms [J].

Ramsay, Andrew J. ;

Quesada, Victor ;

Sanchez, Mayka ;

Garabaya, Cecilia ;

Sarda, Maria P. ;

Baiget, Montserrat ;

Remacha, Angel ;

Velasco, Gloria ;

Lopez-Otin, Carlos .

HUMAN MOLECULAR GENETICS, 2009, 18 (19) :3673-3683

[8] Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis [J].

Ramsay, Andrew J. ;

Hooper, John D. ;

Folgueras, Alicia R. ;

Velasco, Gloria ;

Lopez-Otin, Carlos .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (06) :840-849

[9] The Serine Protease Matriptase-2 (TMPRSS6) Inhibits Hepcidin Activation by Cleaving Membrane Hemojuvelin [J].

Silvestri, Laura ;

Pagani, Alessia ;

Nai, Antonella ;

De Domenico, Ivana ;

Kaplan, Jerry ;

Camaschella, Clara .

CELL METABOLISM, 2008, 8 (06) :502-511

[10] Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia [J].

Silvestri, Laura ;

Guillem, Flavia ;

Pagani, Alessia ;

Nai, Antonella ;

Oudin, Claire ;

Silva, Muriel ;

Toutain, Fabienne ;

Kannengiesser, Caroline ;

Beaumont, Carole ;

Camaschella, Clara ;

Grandchamp, Bernard .

BLOOD, 2009, 113 (22) :5605-5608

← 1 →

A novel splice site mutation c.2278 (-1) G&gt;C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia