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Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene
Joint Authors
Radzi, M. A. M.
Lock Hock, Ngu
Ali, Ernie Zuraida
Zakaria, Yuslina
Jusoh, Siti Azma
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-15, 15 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-05
Country of Publication
Egypt
No. of Pages
15
Main Subjects
Abstract EN
Ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results from mutations in the OTC gene, causes hyperammonemia and leads to various clinical manifestations.
Mutations occurring close to the catalytic site of OTCase can cause severe OTCD phenotypes compared with those caused by mutations occurring on the surface of this protein.
In this study, we report two novel OTC missense mutations, Q171H and N199H, found in Malaysian patients.
Q171H and N199H caused neonatal onset OTCD in a male and late OTCD in a female, respectively.
In silico predictions and molecular docking were performed to examine the effect of these novel mutations, and the results were compared with other 30 known OTC mutations.
In silico servers predicted that Q171H and N199H, as well as 30 known missense mutations, led to the development of OTCD.
Docking analysis indicated that N-(phosphonoacetyl)-L-ornithine (PALO) was bound to the catalytic site of OTCase mutant structure with minimal conformational changes.
However, the mutations disrupted interatomic interactions in the catalytic site.
Therefore, depending on the severity of disruption occurring at the catalytic site, the mutation may affect the efficiency of mechanism and functions of OTCase.
American Psychological Association (APA)
Ali, Ernie Zuraida& Zakaria, Yuslina& Radzi, M. A. M.& Lock Hock, Ngu& Jusoh, Siti Azma. 2018. Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene. BioMed Research International،Vol. 2018, no. 2018, pp.1-15.
https://search.emarefa.net/detail/BIM-1126546
Modern Language Association (MLA)
Ali, Ernie Zuraida…[et al.]. Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene. BioMed Research International No. 2018 (2018), pp.1-15.
https://search.emarefa.net/detail/BIM-1126546
American Medical Association (AMA)
Ali, Ernie Zuraida& Zakaria, Yuslina& Radzi, M. A. M.& Lock Hock, Ngu& Jusoh, Siti Azma. Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-15.
https://search.emarefa.net/detail/BIM-1126546
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1126546