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Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome
Author(s) -
Marcus Suzanne,
Christensen Ernst,
Malm Gunilla
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020608
Subject(s) - biology , hypoxanthine guanine phosphoribosyltransferase , lesch–nyhan syndrome , missense mutation , exon , genetics , hypoxanthine phosphoribosyltransferase , mutation , gene , phenotype , rna splicing , genomic dna , microbiology and biotechnology , rna , mutant
Abstract We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respectively, while two are missense mutations in exons 3 and 8. All 5 mutations result in profound hprt deficiency as measured in fibroblast lysates. However, small differences in the clinical phenotype are seen between the patients. All these mutations are unique and have not been reported previously. © 1993 Wiley‐Liss, Inc.