TY - JOUR
T1 - Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem
AU - Zoref-Shani, E.
AU - Bromberg, Y.
AU - Hirsch, J.
AU - Feinstein, S.
AU - Frishberg, Y.
AU - Sperling, O.
PY - 2004
Y1 - 2004
N2 - A novel point mutation (I137T) was identified in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) encoding gene, in a patient with partial deficiency of the enzyme. The mutation, ATT to ACT (substitution of isoleucine to threonine), occurred at codon 137, which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). The mutation caused decreased affinity for PRPP, manifested clinically as a Lesch-Nyhan variant (excessive purine production and delayed acquisition of language skills). The partial HPRT deficiency could be detected only by measuring HPRT activity in intact fibroblasts (uptake of hypoxanthine into nucleotides).
AB - A novel point mutation (I137T) was identified in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) encoding gene, in a patient with partial deficiency of the enzyme. The mutation, ATT to ACT (substitution of isoleucine to threonine), occurred at codon 137, which is within the region encoding the binding site for 5-phosphoribosyl-1-pyrophosphate (PRPP). The mutation caused decreased affinity for PRPP, manifested clinically as a Lesch-Nyhan variant (excessive purine production and delayed acquisition of language skills). The partial HPRT deficiency could be detected only by measuring HPRT activity in intact fibroblasts (uptake of hypoxanthine into nucleotides).
KW - 5-Phosphoribosyl-1-pyrophosphate
KW - Hypoxanthine-guanine phosphoribosyltransferase
KW - Lesch-Nyhan variant
UR - http://www.scopus.com/inward/record.url?scp=10344264475&partnerID=8YFLogxK
U2 - 10.1081/NCN-200027436
DO - 10.1081/NCN-200027436
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AN - SCOPUS:10344264475
SN - 1525-7770
VL - 23
SP - 1165
EP - 1168
JO - Nucleosides, Nucleotides and Nucleic Acids
JF - Nucleosides, Nucleotides and Nucleic Acids
IS - 8-9
ER -