Unusual presentation of Kelley-Seegmiller syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F08%3A00000908" target="_blank" >RIV/00216208:11120/08:00000908 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/08:1920 RIV/00216208:11110/08:1920
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Unusual presentation of Kelley-Seegmiller syndrome
Original language description
Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal serum uric acid concentrations, increased plasma hypoxanthine, and xanthine were found. HPRT activity in erythrocytes was surprisingly low: at 8.6 nmol h(-1) mg(-1) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A>G (p.Tyr72Cys).Assessment of X-inactivation ratio has shown that >75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings
Czech name
Neobvyklý případ Kelley-Seegmillerova syndromu
Czech description
Neobvyklý případ pacientky s HPRT deficiencí s normální sérovou hladinou kyseliny močové a zvýšenou hladinou hypoxantinu a xantinu, který vysvětluje skutečnost, že vice než 75% aktivního X chromozomu nese mutantní alelu. Mutační analýza odhalila heterozygotní HPRT genovou mutaci c.215A > G (p.Tyr72Cys).
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EA - Morphology and cytology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NR8361" target="_blank" >NR8361: The influence of X-inactivation on phenotype in comon X-linked metabolic disorder, its tissue distribution and inheritance</a><br>
Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2008
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nucleosides, Nucleotides and Nucleic Acids
ISSN
1525-7770
e-ISSN
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Volume of the periodical
27
Issue of the periodical within the volume
6-7
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
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UT code for WoS article
000257338600021
EID of the result in the Scopus database
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