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

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.