Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.

Abstract

Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel mutation which led to HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.

• Authors: Khue Vu Nguyen, William L Nyhan
• Journal: Nucleosides, nucleotides & nucleic acids (Nucleosides Nucleotides Nucleic Acids) Vol. 35 Issue 8 Pg. 426-33 (Aug 02 2016) ISSN: 1532-2335 [Electronic] United States
• PMID: 27379977 (Publication Type: Journal Article)

Chemical References

• Hypoxanthine Phosphoribosyltransferase

Topics

• Adult
• Base Sequence
• DNA Mutational Analysis
• Genetic Association Studies
• Humans
• Hypoxanthine Phosphoribosyltransferase (genetics)
• Lesch-Nyhan Syndrome (diagnosis, genetics)
• Male
• Molecular Diagnostic Techniques
• Mutation, Missense
• Point Mutation
• Polymerase Chain Reaction