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.
| Original language | English |
|---|---|
| Pages (from-to) | e484-e486 |
| Journal | Journal of Pediatric Hematology/Oncology |
| Volume | 41 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2019 |
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Keywords
- hemolytic anemia
- NT5C3 gene
- pyrimidine-5-nucleotidase
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology
Cite this
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. / Köker, Sultan A.; Oymak, Yeşim; Bianchi, Paola; Fermo, Elisa; Karapinar, Tuba H.; Gözmen, Salih; Ay, Yilmaz; Vergin, Raziye C.
In: Journal of Pediatric Hematology/Oncology, Vol. 41, No. 8, 2019, p. e484-e486.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated with Pyrimidine-5′-Nucleotidase Deficiency
T2 - A Case Report
AU - Köker, Sultan A.
AU - Oymak, Yeşim
AU - Bianchi, Paola
AU - Fermo, Elisa
AU - Karapinar, Tuba H.
AU - Gözmen, Salih
AU - Ay, Yilmaz
AU - Vergin, Raziye C.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - hemolytic anemia
KW - NT5C3 gene
KW - pyrimidine-5-nucleotidase
UR - http://www.scopus.com/inward/record.url?scp=85064233203&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85064233203&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000001482
DO - 10.1097/MPH.0000000000001482
M3 - Article
AN - SCOPUS:85064233203
VL - 41
SP - e484-e486
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 8
ER -