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...

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Autores principales:	Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/eff16e9435ff46f8a12425779f3935a0
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spelling	oai:doaj.org-article:eff16e9435ff46f8a12425779f3935a02021-11-10T04:33:56ZA RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION2531-137910.1016/j.htct.2021.10.1000https://doaj.org/article/eff16e9435ff46f8a12425779f3935a02021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921011470https://doaj.org/toc/2531-1379Case 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.Fatma Tuba YILDIRIMElif BenderlioğluDilek KaçarNeşe YaralıElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S28-S29 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Fatma Tuba YILDIRIM Elif Benderlioğlu Dilek Kaçar Neşe Yaralı A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION
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.
format	article
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
title	A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION
title_short	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_sort	rare cause of sideroblastic anemia: trnt1 mutation
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/eff16e9435ff46f8a12425779f3935a0
work_keys_str_mv	AT fatmatubayildirim ararecauseofsideroblasticanemiatrnt1mutation AT elifbenderlioglu ararecauseofsideroblasticanemiatrnt1mutation AT dilekkacar ararecauseofsideroblasticanemiatrnt1mutation AT neseyaralı ararecauseofsideroblasticanemiatrnt1mutation AT fatmatubayildirim rarecauseofsideroblasticanemiatrnt1mutation AT elifbenderlioglu rarecauseofsideroblasticanemiatrnt1mutation AT dilekkacar rarecauseofsideroblasticanemiatrnt1mutation AT neseyaralı rarecauseofsideroblasticanemiatrnt1mutation
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A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION

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