Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child
In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron...
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| Veröffentlicht in: | Blood cells, molecules, & diseases molecules, & diseases, 2017-06, Vol.65, p.38-40 |
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| container_title | Blood cells, molecules, & diseases |
| container_volume | 65 |
| creator | Yaish, Hassan M. Farrell, Colin P. Christensen, Robert D. MacQueen, Brianna C. Jackson, Laurie K. Trochez-Enciso, Jesus Kaplan, Jerry Ward, Diane M. Salah, Walid K. Phillips, John D. |
| description | In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron-refractory iron deficiency anemia. |
| doi_str_mv | 10.1016/j.bcmd.2017.04.002 |
| format | Article |
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Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. 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Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron-refractory iron deficiency anemia.</description><subject>Alleles</subject><subject>Amino Acid Substitution</subject><subject>Anemia</subject><subject>Anemia, Iron-Deficiency - diagnosis</subject><subject>Anemia, Iron-Deficiency - drug therapy</subject><subject>Anemia, Iron-Deficiency - genetics</subject><subject>Anemia, Iron-Deficiency - metabolism</subject><subject>Biomarkers</subject><subject>Blood Cell Count</subject><subject>DNA Mutational Analysis</subject><subject>Erythrocyte Indices</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Infant</subject><subject>Iron</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Serine Endopeptidases - genetics</subject><subject>Whole exome sequencing</subject><subject>Whole Genome Sequencing</subject><issn>1079-9796</issn><issn>1096-0961</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1v1DAQhi0EoqXwBzggH7kkjB1vYktcUFU-pCIQXc6WPyZaL0lcbG-r_fc43cKRw2g-9M6rmYeQ1wxaBqx_t2-tm33LgQ0tiBaAPyHnDFTf1GBP13pQjRpUf0Ze5LwHAMaUfE7OuBQ98H5zTn5t7yNd4h1OdD4UU0JcMg0L3X79_uPmpqcm5-iCKejpfSg7GlJcmoRjMq7EdHzoqccxuICLO1Kz4BzM6mDoHMsOUx156nZh8i_Js9FMGV895gvy8-PV9vJzc_3t05fLD9eNEwClYdIIY0c7ALcD6zjjkjluOyu9RTdYGLHrhGBCeOOUZNYMIPnYjabngxKquyBvT763Kf4-YC56DtnhNNXj4iFrJpXYMMk3myrlJ6lLMef6l75NYTbpqBnoFbLe6xWyXiFrELpCrktvHv0Pdkb_b-Uv1Sp4fxJg_fIuYNL5AQ_6kNAV7WP4n_8fbZyNyw</recordid><startdate>201706</startdate><enddate>201706</enddate><creator>Yaish, Hassan M.</creator><creator>Farrell, Colin P.</creator><creator>Christensen, Robert D.</creator><creator>MacQueen, Brianna C.</creator><creator>Jackson, Laurie K.</creator><creator>Trochez-Enciso, Jesus</creator><creator>Kaplan, Jerry</creator><creator>Ward, Diane M.</creator><creator>Salah, Walid K.</creator><creator>Phillips, John D.</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201706</creationdate><title>Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child</title><author>Yaish, Hassan M. ; 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| subjects | Alleles Amino Acid Substitution Anemia Anemia, Iron-Deficiency - diagnosis Anemia, Iron-Deficiency - drug therapy Anemia, Iron-Deficiency - genetics Anemia, Iron-Deficiency - metabolism Biomarkers Blood Cell Count DNA Mutational Analysis Erythrocyte Indices Female Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Infant Iron Membrane Proteins - genetics Mutation Serine Endopeptidases - genetics Whole exome sequencing Whole Genome Sequencing |
| title | Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child |
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