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Unusual presentation of Kelley-Seegmiller syndrome

I. Šebesta, B. Stibarkova [i.e. Stibůrková], L. Dvořáková, M. Hřebíček, J. Minks, L. Stolnaja, Z. Vernerová, I. Rychlík

. 2008 ; 27 (6) : 648-655.

Jazyk angličtina Země Spojené státy americké

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc11006738

Grantová podpora
NR8361 MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

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