Conclusions
Mutations found in Spanish deficient families are heterogeneous: 8 point mutations, 3 deletions and 2 insertions, and are dispersed all over the HPRT gene. There is not a prevalent mutation in the Spanish HPRT deficient population.
Eight mutations were isolated from patients with Lesch-Nyhan phenotype and most of them are mutations that predict the generation of (non-functional) truncated proteins. Five mutations were identified from patients with the partial phenotype and all were missense mutations. Mutations that result in truncated proteins were commonly associated with Lesch-Nyhan phenotypes.
Characterization of the HPRT mutations allowed a definitive carrier and prenatal genetic diagnosis. These genetic diagnostic methods are faster and more accurate than enzymatic and biochemical methods.
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Torres, R.J. et al. (2002). Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene in Spanish HPRT Deficient Families. In: Zoref-Shani, E., Sperling, O. (eds) Purine and Pyrimidine Metabolism in Man X. Advances in Experimental Medicine and Biology, vol 486. Springer, Boston, MA. https://doi.org/10.1007/0-306-46843-3_3
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DOI: https://doi.org/10.1007/0-306-46843-3_3
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