Glucose phosphate isomerase (GPI) Tadikonda : Characterization of a novel Pro340Ser mutation
After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses. Exome sequencing studies showed a homozygous c.1018C>T (Pro340Ser) mutation in exon 12 of the glucose phosphate isomerase gene and later confirmed by direct sequencing. This mutation has not been previously described. To our knowledge, this is also the first known homozygous mutation in the hydrophobic core of the protein and is a highly deleterious mutation by in silico analysis and by clinical history in the family. Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2017 |
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| Erschienen: |
2017 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:34 |
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| Enthalten in: |
Pediatric hematology and oncology - 34(2017), 8 vom: 28. Nov., Seite 449-454 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Zaidi, Ahmar U [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 25.07.2018 Date Revised 25.07.2018 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1080/08880018.2017.1383541 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM278925766 |
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| 245 | 1 | 0 | |a Glucose phosphate isomerase (GPI) Tadikonda |b Characterization of a novel Pro340Ser mutation |
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| 500 | |a Date Completed 25.07.2018 | ||
| 500 | |a Date Revised 25.07.2018 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses. Exome sequencing studies showed a homozygous c.1018C>T (Pro340Ser) mutation in exon 12 of the glucose phosphate isomerase gene and later confirmed by direct sequencing. This mutation has not been previously described. To our knowledge, this is also the first known homozygous mutation in the hydrophobic core of the protein and is a highly deleterious mutation by in silico analysis and by clinical history in the family. Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
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| 650 | 7 | |a Glucose-6-Phosphate Isomerase |2 NLM | |
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| 700 | 1 | |a Koduri, Prasad Rao |e verfasserin |4 aut | |
| 700 | 1 | |a Goyette, Gerard W |c Jr |e verfasserin |4 aut | |
| 700 | 1 | |a Buck, Steven |e verfasserin |4 aut | |
| 700 | 1 | |a Paglia, Donald E |e verfasserin |4 aut | |
| 700 | 1 | |a Ravindranath, Yaddanapudi |e verfasserin |4 aut | |
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