Description:
ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED
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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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2
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Relation to Proband
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sister
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| MUTATION VERIFICATION |
Sahota et al (Hum Mol Genet 3:817-818 1994) reported that DNA from this APRT-deficient subject was homozygous for a T-to-C transition at position 1759 of the adenine phosphoribosyltransferase gene. The observed change was expected to lead to a leu-to-pro substitution in codon 110 (CTG-to-CCG L110P) in exon 4. |
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| adenine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.7; 1% activity. |
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| Gene |
APRT |
| Chromosomal Location |
16q24 |
| Allelic Variant 1 |
102600.0007; APRT DEFICIENCY |
| Identified Mutation |
LEU110PRO; In 2 sisters from Newfoundland with APRT deficiency (614723), Sahota et al. (1994) identified a homozygous mutation in the APRT gene, resulting in a leu110-to-pro (L110P) substitution. One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. Sahota et al. (1994) found this patient to be homozygous for the T to C transition at nucleotide position 1759 resulting in a leucine to proline missense transition at codon position 110 [leu110pro (L110P)] in the APRT gene. |
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| Gene |
APRT |
| Chromosomal Location |
16q24 |
| Allelic Variant 2 |
102600.0007; APRT DEFICIENCY |
| Identified Mutation |
LEU110PRO; In 2 sisters from Newfoundland with APRT deficiency (614723), Sahota et al. (1994) identified a homozygous mutation in the APRT gene, resulting in a leu110-to-pro (L110P) substitution. One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. Sahota et al. (1994) found this patient to be homozygous for the T to C transition at nucleotide position 1759 resulting in a leucine to proline missense transition at codon position 110 [leu110pro (L110P)] in the APRT gene. |
| Remarks |
Urolithiasis; onset at age 42; 1% of control RBC APRT specific activity; normal RBC HPRT activity; 1% of control cross-reacting material to anti-APRT antibodies in RBC; homozygous for APRT codon 110, exon 4, T>C transition |
| Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA, Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet3:817-8 1994 |
| PubMed ID: 7915931 |
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| Gault MH, Simmonds HA, Snedden W, Dow D, Churchill DN, Penney H, Urolithiasis due to 2,8-dihydroxyadenine in an adult. N Engl J Med305:1570-2 1981 |
| PubMed ID: 7311997 |
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