Open AccessNovel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
Author(s) -
Kirschner Martin,
Heinen Inga Rebecca,
Koschmieder Steffen,
Manco Licinio,
Bento Celeste,
Eggermann Thomas,
Kurth Ingo,
Jost Edgar,
Brümmendorf Tim H.,
Fuchs Roland
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5501
Subject(s) - loss of heterozygosity , medicine , nonsense mutation , genetics , mutation , gene mutation , germline mutation , allele , missense mutation , gene , biology
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.