Author/Authors :
BOROUJERDI، Razieh نويسنده Counselor in Welfare Organization of Qom, Iran , , Shariati، Mohsen نويسنده Research Institute of Applied Sciences , , NADDAFNIA، Hosein نويسنده Technical Corresponding in Pouya, Genetic Counseling Clinic, Qom, Iran , , Rezaei، Hojatolah نويسنده Genetic Division, Biology Department, School of Sciences, The University of Isfahan, Isfahan, Iran ,
Abstract :
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
is a rare inborn error of purine metabolism and is characterized by uric acid
overproduction along with a variety of neurological manifestations that depend
on a degree of the enzymatic deficiency. Inheritance of HPRT deficiency is
X-linked recessive; thus, males are generally more affected and heterozygous
females are carriers (usually asymptomatic). Human HPRT is encoded by a
single structural gene on the long arm of the X chromosome at Xq26. More
than 300 mutations in the HPRT1 gene have been detected. Diagnosis can be
based on clinical and biochemical findings as well as enzymatic and molecular
testing. Molecular diagnosis is the best way as it allows for faster and more
accurate carrier and prenatal diagnosis. In this report, a new small duplication in
the HPRT1 gene was found by sequencing, which has yet to be reported.
