Literature DB >> 15334740

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

B Dussol1, I Ceballos-Picot, B Aral, V Castera, N Philip, Y Berland.   

Abstract

A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymphocytes. Nevertheless, the patient showed no neurological abnormality.

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Year:  2004        PMID： 15334740     DOI： 10.1023/b:boli.0000037399.72152.a9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  8 in total

1.  Clinical utility gene card for: Lesch-Nyhan syndrome.

Authors:  Rosa J Torres; Juan G Puig; Irène Ceballos-Picot
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

2.  Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.

Authors:  Rosa J Torres; Juan G Puig; Irène Ceballos-Picot
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

Review 3.  Recent progress in nanomaterial-based electrochemical and optical sensors for hypoxanthine and xanthine. A review.

Authors:  Muamer Dervisevic; Esma Dervisevic; Mehmet Şenel
Journal:  Mikrochim Acta       Date:  2019-11-06       Impact factor: 5.833

4.  Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Authors:  Rong Fu; H A Jinnah
Journal:  J Biol Chem       Date:  2011-12-07       Impact factor: 5.157

5.  Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Authors:  Irène Ceballos-Picot; Franck Augé; Rong Fu; Anne Olivier-Bandini; Julie Cahu; Brigitte Chabrol; Bernard Aral; Bérengère de Martinville; Jean-Paul Lecain; H A Jinnah
Journal:  Mol Genet Metab       Date:  2013-09-08       Impact factor: 4.797

Review 6.  Attenuated variants of Lesch-Nyhan disease.

Authors:  H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal:  Brain       Date:  2010-02-22       Impact factor: 13.501

7.  Transcriptomic approach to Lesch-Nyhan disease.

Authors:  Luce Dauphinot; Lionel Mockel; Julie Cahu; H A Jinnah; Morgan Ledroit; Marie-Claude Potier; Irène Ceballos-Picot
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2014       Impact factor: 1.381

8.  New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Authors:  Irène Ceballos-Picot; Aurélia Le Dantec; Anaïs Brassier; Jean-Philippe Jaïs; Morgan Ledroit; Julie Cahu; Hang-Korng Ea; Bertrand Daignan-Fornier; Benoît Pinson
Journal:  Orphanet J Rare Dis       Date:  2015-01-23       Impact factor: 4.123
  8 in total

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