Identification of novel mutations in the human HPRT gene

Khue Vu Nguyen; William L Nyhan

doi:10.1080/15257770.2012.742200

Identification of novel mutations in the human HPRT gene

Nucleosides Nucleotides Nucleic Acids. 2013;32(3):155-60. doi: 10.1080/15257770.2012.742200.

Authors

Khue Vu Nguyen¹, William L Nyhan

Affiliation

¹ Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, California 92103-8467, USA. kvn006@ucsd.edu

PMID: 23473102
DOI: 10.1080/15257770.2012.742200

Abstract

Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNVs). We report three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three LNS affected male patients.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Humans
Hypoxanthine Phosphoribosyltransferase / genetics*
Lesch-Nyhan Syndrome / enzymology*
Lesch-Nyhan Syndrome / genetics*
Male
Mutation*
Sequence Analysis, DNA

Substances

Hypoxanthine Phosphoribosyltransferase