About: Unusual presentation of Kelley-Seegmiller syndrome

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1080/15257770802143863
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. (en)
Title	Unusual presentation of Kelley-Seegmiller syndrome Unusual presentation of Kelley-Seegmiller syndrome (en)
skos:prefLabel	Unusual presentation of Kelley-Seegmiller syndrome Unusual presentation of Kelley-Seegmiller syndrome (en)
skos:notation	RIV/00216208:11110/08:1920!RIV12-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR8361), Z(MSM0021620806), Z(MSM0021620808)
http://linked.open...iv/cisloPeriodika	6-7
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Šebesta, Ivan Minks, Jakub Dvořáková, Lenka Stibůrková, Blanka Stolnaja, Larisa Hřebíček, Martin
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	401510
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/08:1920
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency; Lesch-Nyhan disease variants; hyperuricemia; gout (en)
http://linked.open.../riv/klicoveSlovo	Lesch-Nyhan disease variants hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency hyperuricemia gout
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[3F9F8C6FD72A]
http://linked.open...i/riv/nazevZdroje	Nucleosides, Nucleotides and Nucleic Acids
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	The influence of X-inactivation on phenotype in comon X-linked metabolic disorder, its tissue distribution and inheritance
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Rychlík, Ivan Stibůrková, Blanka Šebesta, Ivan Dvořáková, Lenka Vernerová, Zdeňka Hřebíček, Martin Stolnaja, Larisa Minks, Jakub
http://linked.open...ain/vavai/riv/wos	000257338600021
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Molekulárně biologické, genetické a epigenetické aspekty vzniku a rozvoje modelových tumorů dospělého věku. Význam pro epidemiologii, časnou diagnostiku a léčbu
issn	1525-7770
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Unusual presentation of Kelley-Seegmiller syndrome Unusual presentation of Kelley-Seegmiller syndrome

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