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. 2017 Mar 16;4:17007. doi: 10.1038/hgv.2017.7

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Copyright © 2017 The Author(s)

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/

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Clinical information and the results of the molecular analysis. (a) The family tree of the proband’s relatives. The proband (III-7) is a patient with OI. His grandfather (I-1), mother (II-5), and aunt (II-1) are suspected to have OI based on their clinical features, including a short stature, a history of long bone fractures, and blue sclera, although they did not exhibit scoliosis or heart disease. Causes of death: (I-1) death in action, (I-2) blood disease at 84 years, (II-1) traffic accident at 72 years, (III-2) heart disease at 25 years, (III-4) accident at 18 years. (b) Severe scoliosis (Cobb angle: right ~70° at T5-T10, left 60° at T11-L3). There is no obvious progression after adolescence. (c) The IGV (http://www.broadinstitute.org/igv/) shows the identified COL1A1 variant in ~50% of the reads. (d) Electropherograms of Sanger sequencing. The heterozygous variant in the consensus sequence in the splicing donor site of intron 10 is shown in the proband and his mother. The wild-type sequence is observed in the father. IGV, Integrative Genomics Viewer; OI, osteogenesis imperfecta.