A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION
Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-11-01
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| Series: | Hematology, Transfusion and Cell Therapy |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2531137921011470 |
| _version_ | 1818754431675531264 |
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| author | Fatma Tuba YILDIRIM Elif Benderlioğlu Dilek Kaçar Neşe Yaralı |
| author_facet | Fatma Tuba YILDIRIM Elif Benderlioğlu Dilek Kaçar Neşe Yaralı |
| author_sort | Fatma Tuba YILDIRIM |
| collection | DOAJ |
| description | Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees. Here we present a 10-year-old girl with periodic fever, retinitis pigmentosa, B cell deficiency, seizures and transfusion free sideroblastic anemia due to compound heterozygote TRNT1 mutation. |
| first_indexed | 2024-12-18T05:23:09Z |
| format | Article |
| id | doaj.art-eff16e9435ff46f8a12425779f3935a0 |
| institution | Directory Open Access Journal |
| issn | 2531-1379 |
| language | English |
| last_indexed | 2024-12-18T05:23:09Z |
| publishDate | 2021-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Hematology, Transfusion and Cell Therapy |
| spelling | doaj.art-eff16e9435ff46f8a12425779f3935a02022-12-21T21:19:36ZengElsevierHematology, Transfusion and Cell Therapy2531-13792021-11-0143S28S29A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATIONFatma Tuba YILDIRIM0Elif Benderlioğlu1Dilek Kaçar2Neşe Yaralı3Ankara City HospitalAnkara City HospitalAnkara City HospitalAnkara City HospitalCase report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees. Here we present a 10-year-old girl with periodic fever, retinitis pigmentosa, B cell deficiency, seizures and transfusion free sideroblastic anemia due to compound heterozygote TRNT1 mutation.http://www.sciencedirect.com/science/article/pii/S2531137921011470 |
| spellingShingle | Fatma Tuba YILDIRIM Elif Benderlioğlu Dilek Kaçar Neşe Yaralı A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION Hematology, Transfusion and Cell Therapy |
| title | A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION |
| title_full | A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION |
| title_fullStr | A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION |
| title_full_unstemmed | A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION |
| title_short | A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION |
| title_sort | rare cause of sideroblastic anemia trnt1 mutation |
| url | http://www.sciencedirect.com/science/article/pii/S2531137921011470 |
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