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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. <jats:italic>Methods<\/jats:italic>. 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. <jats:italic>Results<\/jats:italic>. Gene sequencing showed a novel nonsense mutation (c.745G\u2009&gt;\u2009T, p.E249X), which locates at a highly conserved region containing residues p.240\u2013266 (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. <jats:italic>Conclusions<\/jats:italic>. This report identified a novel mutation that truncates the PLS3 gene. Moreover, bioinformatic analyses of the previous reported mutations in <jats:italic>PLS3<\/jats:italic> 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.<\/jats:p>","DOI":"10.1155\/2018\/8953217","type":"journal-article","created":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T23:32:08Z","timestamp":1539559928000},"page":"1-9","source":"Crossref","is-referenced-by-count":13,"title":["Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of <i>PLS3<\/i> in Patients with BMND18"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0179-3586","authenticated-orcid":true,"given":"Ting","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Metabolism, and Genetic Diseases, Children\u2019s Hospital of Soochow University, Suzhou, Jiangsu, 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