Literature DB >> 22183764

Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.

Suvasini Sharma1, Rosa Torres Jiménez, Satinder Aneja, Marta G Garcia, Gulshan R Sethi.   

Abstract

The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene.

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Year:  2011        PMID： 22183764     DOI： 10.1007/s12098-011-0657-9

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  8 in total

1.  A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Authors:  M LESCH; W L NYHAN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

2.  Self-mutilation in the Lesch-Nyhan syndrome.

Authors:  Boby Varkey Maramattom
Journal:  Neurology       Date:  2005-12-13       Impact factor: 9.910

3.  The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

Authors:  J G Puig; R J Torres; F A Mateos; T H Ramos; J M Arcas; A S Buño; P O'Neill
Journal:  Medicine (Baltimore)       Date:  2001-03       Impact factor: 1.889

4.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

Authors:  R J Torres; F A Mateos; J Molano; B S Gathoff; J P O'Neill; R M Gundel; L Trombley; J G Puig
Journal:  Hum Mutat       Date:  2000-04       Impact factor: 4.878

Review 5.  The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

Authors:  H A Jinnah; L De Gregorio; J C Harris; W L Nyhan; J P O'Neill
Journal:  Mutat Res       Date:  2000-10       Impact factor: 2.433

6.  Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

Authors:  Y Yamada; K Yamada; S Sonta; N Wakamatsu; N Ogasawara
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2004-10       Impact factor: 1.381

7.  The diagnosis of HPRT deficiency in the 21st century.

Authors:  R J Torres; J G Puig
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2008-06       Impact factor: 1.381

Review 8.  Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Authors:  Rosa J Torres; Juan G Puig
Journal:  Orphanet J Rare Dis       Date:  2007-12-08       Impact factor: 4.123
  8 in total
  1 in total

Review 1.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501
  1 in total

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