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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F08%3A1920%21RIV12-MZ0-11110___
rdf:type
n20:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1080/15257770802143863
dcterms: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. 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.
dcterms:title
Unusual presentation of Kelley-Seegmiller syndrome Unusual presentation of Kelley-Seegmiller syndrome
skos:prefLabel
Unusual presentation of Kelley-Seegmiller syndrome Unusual presentation of Kelley-Seegmiller syndrome
skos:notation
RIV/00216208:11110/08:1920!RIV12-MZ0-11110___
n3:aktivita
n9:Z n9:P
n3:aktivity
P(NR8361), Z(MSM0021620806), Z(MSM0021620808)
n3:cisloPeriodika
6-7
n3:dodaniDat
n12:2012
n3:domaciTvurceVysledku
n6:1410938 n6:2876361 n6:1969730 n6:3215679 n6:9000402 n6:2446561
n3:druhVysledku
n17:J
n3:duvernostUdaju
n8:S
n3:entitaPredkladatele
n18:predkladatel
n3:idSjednocenehoVysledku
401510
n3:idVysledku
RIV/00216208:11110/08:1920
n3:jazykVysledku
n14:eng
n3:klicovaSlova
hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency; Lesch-Nyhan disease variants; hyperuricemia; gout
n3:klicoveSlovo
n11:hyperuricemia n11:hypoxanthine-guanine%20phosphoribosyltransferase%20%28HPRT%29%20deficiency n11:gout n11:Lesch-Nyhan%20disease%20variants
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[3F9F8C6FD72A]
n3:nazevZdroje
Nucleosides, Nucleotides and Nucleic Acids
n3:obor
n19:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
8
n3:projekt
n16:NR8361
n3:rokUplatneniVysledku
n12:2008
n3:svazekPeriodika
27
n3:tvurceVysledku
Stolnaja, Larisa Vernerová, Zdeňka Hřebíček, Martin Rychlík, Ivan Šebesta, Ivan Dvořáková, Lenka Minks, Jakub Stibůrková, Blanka
n3:wos
000257338600021
n3:zamer
n4:MSM0021620806 n4:MSM0021620808
s:issn
1525-7770
s:numberOfPages
8
n10:organizacniJednotka
11110