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P5'N-1编码基因中的新型纯合无义突变是遗传性嗜碱性点彩红细胞贫血的另一个病因。

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

作者信息

Kirschner Martin, Heinen Inga Rebecca, Koschmieder Steffen, Manco Licinio, Bento Celeste, Eggermann Thomas, Kurth Ingo, Jost Edgar, Brümmendorf Tim H, Fuchs Roland

机构信息

Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation University Medical Center RWTH Aachen Aachen Germany.

Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD) Aachen Germany.

出版信息

Clin Case Rep. 2022 Mar 4;10(3):e05501. doi: 10.1002/ccr3.5501. eCollection 2022 Mar.

DOI:10.1002/ccr3.5501
PMID:35280089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8895901/
Abstract

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.

摘要

遗传性嘧啶5-核苷酸酶（P5'N-1）缺乏症是一种非常罕见的疾病。在此，我们描述了一个土耳其家庭中的一种新突变。尽管尚未进行功能测试，但我们的研究结果证实，纯合突变状态会导致临床上明显的P5'N-1缺乏症，而杂合子状态不会导致溶血或贫血。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/92ad801eec60/CCR3-10-e05501-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/ef2515b878d1/CCR3-10-e05501-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/67cea721cb30/CCR3-10-e05501-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/df52e79d45ea/CCR3-10-e05501-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/92ad801eec60/CCR3-10-e05501-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/ef2515b878d1/CCR3-10-e05501-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/67cea721cb30/CCR3-10-e05501-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/df52e79d45ea/CCR3-10-e05501-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7249/8895901/92ad801eec60/CCR3-10-e05501-g001.jpg

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