title: Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
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.
authors.affiliation: a Department of Medicine, Biochemical Genetics and Metabolism , The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.
authors.forename: Khue Vu
authors.initials: KV
authors.lastname: Nguyen
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D002478:Cells, Cultured; D005190:Family; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D054643:INDEL Mutation; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase
keywords: HGprt enzyme; HPRT1 gene; Lesch–Nyhan syndrome; SRS mechanism; mutation