Article
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Molecular genetics and metabolism - 1 Nov 2013
Ceballos-Picot Irène, Augé Franck, Fu Rong, Olivier-Bandini Anne, Cahu Julie, Chabrol Brigitte, Aral Bernard, de Martinville Bérengère, Lecain Jean-Paul, Jinnah H A
Abstract excerpt
We describe a family of seven boys affected by Lesch-Nyhan disease with various phenotypes. Further investigations revealed a mutation c.203T>C in the gene encoding HGprt of all members, with substitution of leucine to proline at residue 68 (p.Leu68Pro). Thus patients from this family display a wide variety of symptoms although sharing the same mutation. Mutant HGprt enzyme was prepared by site-directed...
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