Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of thePKLRGene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia
| Autor: | Oskar A. Haas, Franz Ratzinger, Astrid Dossenbach‐Glaninger, Milen Minkov, Bernhard Fahrner, Kaan Boztug, Leo Kager, Petra Zeitlhofer |
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| Rok vydání: | 2016 |
| Předmět: |
Genetics
Hemolytic anemia Promoter Hematology Biology medicine.disease Compound heterozygosity Molecular biology Asymptomatic 03 medical and health sciences Exon 0302 clinical medicine Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health medicine Missense mutation medicine.symptom Gene Pyruvate kinase 030215 immunology |
| Zdroj: | Pediatric Blood & Cancer. 63:914-916 |
| ISSN: | 1545-5009 |
| Popis: | We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for mutation screening of the PKLR gene and revealed that one child was a compound heterozygote of a novel paternally derived 5-bp deletion in the promoter region (c.-88_-84delTCTCT) and a maternally derived missense mutation in exon nine (c.1174G>A; p.Ala392Thr). The second child was a compound heterozygote of two novel missense mutations, namely a paternally derived exon ten c.1381G>A (p.Glu461Lys) and a maternally derived exon seven c.907-908delCC (p.Pro303GlyfsX12) variant. |
| Databáze: | OpenAIRE |
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