Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients
Joint Authors
Fahad Al-Arfaj, Hussein
Ali Khan Pathan, Akbar
Khan, Zahid
Alanazi, Mohammed
Purusottapatnam Shaik, Jilani
Abduljaleel, Zainularifeen
Reddy Parine, Narasimha
al-Arfaj, Abdulrahman Saud
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-12, 12 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-07-09
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Abstract EN
Over the past decade, a steady increase in the incidence of HPRT-related hyperuricemia (HRH) has been observed in Saudi Arabia.
We examined all the nine exons of HPRT gene for mutations in ten biochemically confirmed hyperuricemia patients, including one female and three normal controls.
In all, we identified 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid.
The Lys103Met alteration was highly recurrent and was observed in 50% of the cases, while Ala160Thr and Lys158Asn substitutions were found in two patients.
Moreover, in 70% of the patients ≥2 mutations were detected concurrently in the HPRT gene.
Interestingly, one of the patients that harbored Lys103Met substitution along with two frameshift mutations at codons 85 and 160 resulting in shortened protein demonstrated unusually high serum uric acid level of 738 μmol/L.
Two of the seven point mutations that resulted in amino acid change (Lys103Met and Val160Gly) were predicted to be damaging by SIFT and Polyphen and were further analyzed for their protein stability and function by molecular dynamics simulation.
The identified novel mutations in the HPRT gene may prove useful in the prenatal diagnosis and genetic counseling.
American Psychological Association (APA)
Alanazi, Mohammed& al-Arfaj, Abdulrahman Saud& Abduljaleel, Zainularifeen& Fahad Al-Arfaj, Hussein& Reddy Parine, Narasimha& Purusottapatnam Shaik, Jilani…[et al.]. 2014. Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients. BioMed Research International،Vol. 2014, no. 2014, pp.1-12.
https://search.emarefa.net/detail/BIM-460735
Modern Language Association (MLA)
Alanazi, Mohammed…[et al.]. Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients. BioMed Research International No. 2014 (2014), pp.1-12.
https://search.emarefa.net/detail/BIM-460735
American Medical Association (AMA)
Alanazi, Mohammed& al-Arfaj, Abdulrahman Saud& Abduljaleel, Zainularifeen& Fahad Al-Arfaj, Hussein& Reddy Parine, Narasimha& Purusottapatnam Shaik, Jilani…[et al.]. Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-12.
https://search.emarefa.net/detail/BIM-460735
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-460735