Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
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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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Ethnicity
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ITALIAN/IRISH
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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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| 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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MUTATION VERIFICATION |
Gibbs et al (Proc Natl Acad Sci USA 86:1919-1923 1989) reported that HPRT cDNA from this Lesch-Nyhan syndrome cell culture lacked exon 8. |
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| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8 |
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| Gene |
HPRT1 |
| Chromosomal Location |
Xq26-q27.2 |
| Allelic Variant 1 |
308000.0005; HPRT CONNERSVILLE |
| Identified Mutation |
EX8DEL; In a patient with LNS, Davidson et al. [J. Biol. Chem. 264:520 (1989)] found deletion of nucleotides 532-609 (all of exon 8) causing loss of phe178 to asn203. A change in reading frames results in a stop codon 15 nucleotides downstream from the junction between exons 7 and 9. |
| Remarks |
Delayed motor development; choreoathetoid movements; elevated serum uric acid; no self-mutilation; deficient WBC HPRT activity, normal APRT activity; no males with neurologic disorders in pedigree; exon 8 deleted from HPRT1 cDNA |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT, Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A86:1919-23 1989 |
| PubMed ID: 2928313 |
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