Normal HPRT coding region in complete and partial HPRT deficiency

Lesch–Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a virtually complete lack of hypoxanthine–guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by the effects of excess uric acid synthesis and a cont...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2008-06, Vol.94 (2), p.167-172
Main Authors: García, Marta G., Torres, Rosa J., Prior, Carmen, Puig, Juan G.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Base Sequence
Child
Child, Preschool
Gene regulation
Genome, Human
HPRT
Humans
Hyperuricemia
Hypoxanthine Phosphoribosyltransferase - genetics
Hypoxanthine Phosphoribosyltransferase - metabolism
Lesch-Nyhan Syndrome - genetics
Lesch–Nyhan
Male
Open Reading Frames
Polymerase Chain Reaction
Promoter Regions, Genetic
Real-time PCR
RNA, Messenger - genetics
RNA, Messenger - metabolism
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Summary:Lesch–Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a virtually complete lack of hypoxanthine–guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by the effects of excess uric acid synthesis and a continuum spectrum of neurological manifestations, without the manifestations of full-blown Lesch–Nyhan syndrome. Both diseases have been associated with mutations in the HPRT gene. These mutations are heterogeneous and disperse throughout the entire HPRT gene. In 2005 Dawson et al. described, for the first time, an individual with gout in whom HPRT deficiency appeared to be due to a defect in gene regulation. In the present study we present four patients with partial HPRT deficiency and one patient with Lesch–Nyhan syndrome who showed a normal HPRT coding sequence and markedly decreased HPRT mRNA expression. This is the first report of a patient with Lesch–Nyhan syndrome due to a defect in HPRT gene expression regulation.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2008.01.006