Description:
INOSINE TRIPHOSPHATASE DEFICIENCY
INOSINE TRIPHOSPHATASE; ITPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| inositol-polyphosphate 5-phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.56; 20% activity. |
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| Gene |
ITPA |
| Chromosomal Location |
20p |
| Allelic Variant 1 |
147520.0001; INOSINE TRIPHOSPHATASE DEFICIENCY |
| Identified Mutation |
PRO32THR; In patients with ITPase deficiency, Sumi et al. (2002) found a 94C-A transversion in exon 2 of the ITPA gene that resulted in a pro32-to-thr (P32T) substitution. The proline residue is conserved in mouse and Drosophila. All 6 individuals who were homozygous for the 94C-A mutation had completely deficient erythrocyte ITPase activity, accompanied by the abnormal accumulation of ITP and red blood cells. In addition, ITPase activity was decreased in all 13 heterozygotes, providing further evidence of the association between the 94C-A mutation and an ITPase-deficient phenotype. |
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| Gene |
ITPA |
| Chromosomal Location |
20p |
| Allelic Variant 2 |
147520.0001; INOSINE TRIPHOSPHATASE DEFICIENCY |
| Identified Mutation |
PRO32THR; In patients with ITPase deficiency, Sumi et al. (2002) found a 94C-A transversion in exon 2 of the ITPA gene that resulted in a pro32-to-thr (P32T) substitution. The proline residue is conserved in mouse and Drosophila. All 6 individuals who were homozygous for the 94C-A mutation had completely deficient erythrocyte ITPase activity, accompanied by the abnormal accumulation of ITP and red blood cells. In addition, ITPase activity was decreased in all 13 heterozygotes, providing further evidence of the association between the 94C-A mutation and an ITPase-deficient phenotype. |
| Remarks |
Clinically affected; see GM01617 Fibroblast; deficient RBC ITPase; 20% of normal ITPase activity in lymphoblasts; Neutral Alpha-glucosidase C phenotype=1; donor subject is homozygous for a C>A transversion at nucleotide 94 (94C>A) in exon 2 of the ITPA gene resulting in a proline to threonine substitution at codon 32 [Pro32Thr (P32T)] |
| Swart M, Stansberry WM, Pratt VM, Medeiros EB, Kiel PJ, Shen F, Schneider BP, Skaar TC, Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology The Journal of molecular diagnostics : JMD21:491-502 2018 |
| PubMed ID: 30794985 |
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| Martiniuk F, Hirschhorn R, Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele. Am J Hum Genet32:497-507 1980 |
| PubMed ID: 6994494 |
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