Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

Hereditary pyrimidine 5‐nucleotidase (P5′N‐1) deficiency is a very rare disorder. Here, we describe a new mutation in a Turkish family. Although functional tests have not been performed, our findings confirm that the homozygous mutational state leads to clinical manifest P5′N‐1 deficiency, while het...

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Autores principales: Kirschner, Martin, Heinen, Inga Rebecca, Koschmieder, Steffen, Manco, Licinio, Bento, Celeste, Eggermann, Thomas, Kurth, Ingo, Jost, Edgar, Brümmendorf, Tim H., Fuchs, Roland
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895901/
https://www.ncbi.nlm.nih.gov/pubmed/35280089
http://dx.doi.org/10.1002/ccr3.5501
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author Kirschner, Martin
Heinen, Inga Rebecca
Koschmieder, Steffen
Manco, Licinio
Bento, Celeste
Eggermann, Thomas
Kurth, Ingo
Jost, Edgar
Brümmendorf, Tim H.
Fuchs, Roland
author_facet Kirschner, Martin
Heinen, Inga Rebecca
Koschmieder, Steffen
Manco, Licinio
Bento, Celeste
Eggermann, Thomas
Kurth, Ingo
Jost, Edgar
Brümmendorf, Tim H.
Fuchs, Roland
author_sort Kirschner, Martin
collection PubMed
description Hereditary pyrimidine 5‐nucleotidase (P5′N‐1) deficiency is a very rare disorder. Here, we describe a new mutation in a Turkish family. Although functional tests have not been performed, our findings confirm that the homozygous mutational state leads to clinical manifest P5′N‐1 deficiency, while heterozygosity does not lead to hemolysis or anemia.
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spelling pubmed-88959012022-03-10 Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling Kirschner, Martin Heinen, Inga Rebecca Koschmieder, Steffen Manco, Licinio Bento, Celeste Eggermann, Thomas Kurth, Ingo Jost, Edgar Brümmendorf, Tim H. Fuchs, Roland Clin Case Rep Case Reports Hereditary pyrimidine 5‐nucleotidase (P5′N‐1) deficiency is a very rare disorder. Here, we describe a new mutation in a Turkish family. Although functional tests have not been performed, our findings confirm that the homozygous mutational state leads to clinical manifest P5′N‐1 deficiency, while heterozygosity does not lead to hemolysis or anemia. John Wiley and Sons Inc. 2022-03-04 /pmc/articles/PMC8895901/ /pubmed/35280089 http://dx.doi.org/10.1002/ccr3.5501 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Kirschner, Martin
Heinen, Inga Rebecca
Koschmieder, Steffen
Manco, Licinio
Bento, Celeste
Eggermann, Thomas
Kurth, Ingo
Jost, Edgar
Brümmendorf, Tim H.
Fuchs, Roland
Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
title Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
title_full Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
title_fullStr Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
title_full_unstemmed Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
title_short Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
title_sort novel homozygous nonsense mutation in the p5′n‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895901/
https://www.ncbi.nlm.nih.gov/pubmed/35280089
http://dx.doi.org/10.1002/ccr3.5501
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