دورية أكاديمية
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia
| العنوان: | Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia |
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| المؤلفون: | Beutler, E, Van Geet, Christel, te Loo, D M W M, Gelbart, T, Crain, K, Truksa, J, Lee, P L |
| بيانات النشر: | Academic Press |
| سنة النشر: | 2010 |
| المجموعة: | KU Leuven: Lirias |
| مصطلحات موضوعية: | Aged, Amino Acid Substitution, Anemia, Iron-Deficiency, Refractory, Antimicrobial Cationic Peptides, Child, Cohort Studies, DNA Mutational Analysis, European Continental Ancestry Group, Female, Gene Frequency, Hep G2 Cells, Humans, Infant, Male, Membrane Proteins, Middle Aged, Mutation, Pedigree, Polymorphism, Genetic, Serine Endopeptidases |
| الوصف: | Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia. Three uncommon non-synonymous polymorphisms were identified, G228D, R446W, and V795I (allele frequencies 0.0074, 0.023 and 0.0074 respectively), of which the R446W polymorphism appeared to be overrepresented in the anemic population. In addition, three children with iron refractory iron deficiency anemia, and one sibling with iron responsive iron deficiency anemia were also examined for polymorphisms or sporadic mutations in TMPRSS6. Two children (family 1) were compound heterozygotes for a L674F mutation and a previously described splicing defect predicted to cause skipping of exon 13 (IVS13+1 G>A). One child from the second family was homozygous for a deletion (497T) causing a frameshift (L166X+36) and premature termination. The sibling and mother from the second family were compound heterozygotes for the L166X mutation and the uncommon R446W polymorphism. Although in vitro expression studies demonstrated that the R446W isoform was biologically similar to wildtype Tmprss6, clinical data indicate that the R446W produces a milder disease when carried in trans with severe mutation in Tmprss6. The four children carrying mutations in TMPRSS6 all exhibited inappropriately high urinary hepcidin levels for the degree of iron deficiency. ; status: published |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1079-9796 1096-0961 |
| العلاقة: | Blood Cells, Molecules & Diseases vol:44 issue:1 pages:16-21; https://lirias.kuleuven.be/handle/123456789/271446Test; http://linkinghub.elsevier.com/retrieve/pii/S1079-9796Test(09)00168-5 |
| الإتاحة: | https://lirias.kuleuven.be/handle/123456789/271446Test http://linkinghub.elsevier.com/retrieve/pii/S1079-9796Test(09)00168-5 |
| رقم الانضمام: | edsbas.63D1785 |
| قاعدة البيانات: | BASE |
| تدمد: | 10799796 10960961 |
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