PMID: 11336982May 5, 2001Paper

Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

Mutation Research
E M BrooksJ P O'Neill

Abstract

Mutations in the HPRT gene cause a spectrum of diseases that ranges from hyperuricemia alone to hyperuricemia with profound neurological and behavioral dysfunction. The extreme phenotype is termed Lesch-Nyhan syndrome. In 271 cases in which the germinal HPRT mutation has been characterized, 218 different mutations have been found. Of these, 34 (13%) are large- (macro-) deletions of one exon or greater and four (2%) are partial gene duplications. The deletion breakpoint junctions have been defined for only three of the 34 macro-deletions. The molecular basis of two of the four duplications has been defined. We report here the breakpoint junctions for three new deletion mutations, encompassing exons 4-8 (20033bp), exons 4 and 5 (13307bp) and exons 5 and 6 (9454bp), respectively. The deletion breakpoints were defined by a combination of long polymerase chain reaction (PCR) amplifications, and conventional PCR and DNA sequencing. All three deletions are the result of non-homologous recombinations. A fourth mutation, a duplication of exons 2 and 3, is the result of an Alu-mediated homologous recombination between identical 19bp sequences in introns 3 and 1. In toto, two of three germinal HPRT duplication mutations appear to have bee...Continue Reading

Citations

Jun 21, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Alojz GregoricBoris Zagradisnik
Aug 11, 2010·Clinical Genetics·Z GucevV Tasic
Feb 21, 2018·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Peter A LarsenAnn M Saunders
Jul 20, 2018·Open Biology·Gabriela O BodeaGeoffrey J Faulkner
Jan 29, 2002·Environmental and Molecular Mutagenesis·M WilliamsJ A Nicklas
Sep 14, 2019·Nature Reviews. Genetics·Lindsay M Payer, Kathleen H Burns
Jan 17, 2020·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Emily L Casanova, Miriam K Konkel
Feb 26, 2003·Human Genetics·Anton BuzdinEugene Sverdlov
Nov 15, 2008·Prenatal Diagnosis·J M Friedman
Oct 9, 2002·Genome Research·Prescott L Deininger, Mark A Batzer

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