A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.

Abstract

Pyrimidine-5-nucleotidase (P5'N-1) deficiency is a rare nonspherocytic hemolytic anemia due to pyrimidine nucleotide deposition within erythrocytes. This rare erythrocyte disorder shows autosomal recessive inheritance with mutation of the pyrimidine-5'-nucleotidase gene, which is localized on 7p15-p14. Consanguinity of parents increases the probability of disease with novel mutations. Here, we report a 12-year-old boy with a delayed diagnosis of P5'N deficiency whose parents were consanguineous. He had a hemoglobin level of 7.5 g/dL, mean corpuscular volume of 93 fL, 7% reticulocyte, and lactate dehydrogenase of 678 IU/L. A peripheral blood smear showed polychromasia, marked anisopoikilocytosis with schistocytes, elliptocytes, stomatocytes, spherocytes, dacryocyte, and basophilic stippling in red blood. Decreased purine/pyrimidine ratio was 1.07 (normal range=1.4 to 2.98). Molecular analysis with direct DNA sequencing of the NT5C3 gene, codifying for P5'N-1, revealed the presence of a novel homozygous mutation, c393-394delTA, in the gene coding P5'N enzyme in the patient. To our knowledge, this is a newly defined mutation in P5'N deficiency.

• Authors: Sultan A Köker, Yeşim Oymak, Paola Bianchi, Elisa Fermo, Tuba H Karapinar, Salih Gözmen, Yilmaz Ay, Raziye C Vergin
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 41 Issue 8 Pg. e484-e486 (Nov 2019) ISSN: 1536-3678 [Electronic] United States
• PMID: 30951028 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glycoproteins
• 5'-Nucleotidase
• NT5C3A protein, human

Topics

• 5'-Nucleotidase (deficiency, genetics)
• Anemia, Hemolytic, Congenital (enzymology, genetics)
• Base Sequence
• Child
• Glycoproteins (genetics)
• Humans
• Male
• Sequence Deletion