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Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18
Joint Authors
Chen, Ting
Chen, Linqi
Wu, Haiying
Xie, Rongrong
Wang, Fengyun
Chen, Xiuli
Sun, Hui
Xiao, Fei
Zhang, Chenxi
Feng, Jiarong
Zhou, Huiting
Source
International Journal of Endocrinology
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-10-14
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Background.
Bone mineral density quantitative trait locus 18 (BMND18, OMIM #300910) is a type of early-onset osteogenesis imperfecta (OI) caused by loss-of-function mutations in the PLS3 gene, which encodes plastin-3, a key protein in the formation of actin bundles throughout the cytoskeleton.
Here, we report a patient with PLS3 mutation caused BMND18 and evaluated all the reported disease-causing mutations by bioinformatic analysis.
Methods.
Targeted gene sequencing was performed to find the disease-causing mutation in our patient.
Bioinformatic analyses mainly including homology modelling and molecular dynamics stimulation were conducted to explore the impact of the previously reported mutations on plastin-3.
Results.
Gene sequencing showed a novel nonsense mutation (c.745G > T, p.E249X), which locates at a highly conserved region containing residues p.240–266 (LOOP-1) in the PLS3 gene.
Further bioinformatic analyses of the previously reported mutations revealed that LOOP-1 is predicted to physically connect the calponin-homology 1 (CH1) and CH2 domains of the ABD1 fragment and spatially locates within the interface of ABD1 and ABD2.
It is crucial to the conformation transition and actin-binding function of plastin-3.
Conclusions.
This report identified a novel mutation that truncates the PLS3 gene.
Moreover, bioinformatic analyses of the previous reported mutations in PLS3 gene lead us to find a critical LOOP-1 region of plastin-3 mutations at which may be detrimental to the integral conformation of plastin-3 and thus affect its binding to actin filament.
American Psychological Association (APA)
Chen, Ting& Wu, Haiying& Zhang, Chenxi& Feng, Jiarong& Chen, Linqi& Xie, Rongrong…[et al.]. 2018. Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18. International Journal of Endocrinology،Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1172239
Modern Language Association (MLA)
Chen, Ting…[et al.]. Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18. International Journal of Endocrinology No. 2018 (2018), pp.1-9.
https://search.emarefa.net/detail/BIM-1172239
American Medical Association (AMA)
Chen, Ting& Wu, Haiying& Zhang, Chenxi& Feng, Jiarong& Chen, Linqi& Xie, Rongrong…[et al.]. Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18. International Journal of Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1172239
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172239