title: Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients.
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.
authors.affiliation: Counselor in Welfare Organization of Qom, Iran.
authors.forename: Razieh
authors.initials: R
authors.lastname: Boroujerdi
authors.affiliation: Technical Corresponding in Pouya, Genetic Counseling Clinic, Qom, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Shariati
authors.affiliation: Islamic Azad University Science and Research Branch, Tehran, Iran.
authors.forename: Hosein
authors.initials: H
authors.lastname: Naddafnia
authors.affiliation: Counselor in Arman Genetic Counseling Clinic, Babol, Iran.
authors.forename: Hojatolah
authors.initials: H
authors.lastname: Rezaei
keywords: HPRT gene; Lesch-Nyhan syndrome; Prenatal diagnosis.; Purine metabolism