Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene

Khue Vu Nguyen; William L Nyhan

doi:10.1080/15257770.2015.1014492

Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene

Nucleosides Nucleotides Nucleic Acids. 2015;34(6):442-7. doi: 10.1080/15257770.2015.1014492.

Authors

Khue Vu Nguyen¹, William L Nyhan

Affiliation

¹ a Department of Medicine, Biochemical Genetics and Metabolism , The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.

PMID: 25965333
DOI: 10.1080/15257770.2015.1014492

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 LNS in a family with a deletion followed by an insertion (INDELS) via the serial replication slippage mechanism: c.428_432delTGCAGinsAGCAAA, p.Met143Lysfs*12 in exon 6 of HPRT1 gene. Molecular diagnosis discloses the genetic heterogeneity of HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.

Keywords: HGprt enzyme; HPRT1 gene; Lesch–Nyhan syndrome; SRS mechanism; mutation.

Publication types

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

MeSH terms

Cells, Cultured
Family
Female
Humans
Hypoxanthine Phosphoribosyltransferase / genetics*
INDEL Mutation*
Lesch-Nyhan Syndrome / genetics*
Male

Substances

Hypoxanthine Phosphoribosyltransferase