Literature DB >> 29354746

The genetic implication of scoliosis in osteogenesis imperfecta: a review.

Gang Liu1, Jia Chen1, Yangzhong Zhou2, Yuzhi Zuo1, Sen Liu1,2,3, Weisheng Chen1, Zhihong Wu2,3,4, Nan Wu1,2,3.   

Abstract

Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, we summarize the etiology of scoliosis in OI, especially the genetic studies of different types. We aim to provide a systematic review of the genetic etiology and clinical suggestions of scoliosis in OI.

Entities:  

Keywords:  Osteogenesis imperfecta (OI); bone formation; gene; scoliosis

Year:  2017        PMID： 29354746      PMCID： PMC5760423          DOI： 10.21037/jss.2017.10.01

Source DB:  PubMed          Journal:  J Spine Surg        ISSN： 2414-4630


  79 in total

1.  Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.

Authors:  J E Oliver; E M Thompson; F M Pope; A C Nicholls
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

2.  Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Authors:  Wayne A Cabral; Elena Makareeva; Alain Colige; Anne D Letocha; Jennifer M Ty; Heather N Yeowell; Gerard Pals; Sergey Leikin; Joan C Marini
Journal:  J Biol Chem       Date:  2005-02-22       Impact factor: 5.157

3.  Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

Authors:  Atsuko Sato; Jean Ouellet; Takeshi Muneta; Francis H Glorieux; Frank Rauch
Journal:  Bone       Date:  2016-02-27       Impact factor: 4.398

4.  Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

Authors:  Roberto Mendoza-Londono; Somayyeh Fahiminiya; Jacek Majewski; Martine Tétreault; Javad Nadaf; Peter Kannu; Etienne Sochett; Andrew Howard; Jennifer Stimec; Lucie Dupuis; Paul Roschger; Klaus Klaushofer; Telma Palomo; Jean Ouellet; Hadil Al-Jallad; John S Mort; Pierre Moffatt; Sergei Boudko; Hans-Peter Bächinger; Frank Rauch
Journal:  Am J Hum Genet       Date:  2015-05-28       Impact factor: 11.025

5.  Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.

Authors:  P V Asharani; Katharina Keupp; Oliver Semler; Wenshen Wang; Yun Li; Holger Thiele; Gökhan Yigit; Esther Pohl; Jutta Becker; Peter Frommolt; Carmen Sonntag; Janine Altmüller; Katharina Zimmermann; Daniel S Greenspan; Nurten A Akarsu; Christian Netzer; Eckhard Schönau; Radu Wirth; Matthias Hammerschmidt; Peter Nürnberg; Bernd Wollnik; Thomas J Carney
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

6.  A probable new type of osteopenic bone disease.

Authors:  Torulf L Widhe
Journal:  Pediatr Radiol       Date:  2002-03-19

Review 7.  Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case.

Authors:  E McPherson; M Clemens
Journal:  Am J Med Genet       Date:  1997-05-02

Review 8.  Calcium/calmodulin signaling controls osteoblast growth and differentiation.

Authors:  Majd Zayzafoon
Journal:  J Cell Biochem       Date:  2006-01-01       Impact factor: 4.429

9.  Correlation of scoliotic curvature with Z-score bone mineral density and body mass index in patients with osteogenesis imperfecta.

Authors:  Goichi Watanabe; Satoshi Kawaguchi; Toshikatsu Matsuyama; Toshihiko Yamashita
Journal:  Spine (Phila Pa 1976)       Date:  2007-08-01       Impact factor: 3.468

10.  Scoliosis associated with osteogenesis imperfecta.

Authors:  K Yong-Hing; G D MacEwen
Journal:  J Bone Joint Surg Br       Date:  1982
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  2 in total

1.  Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta.

Authors:  M C Keuning; S J G Leeuwerke; P R van Dijk; A G J Harsevoort; H P Grotjohan; A A M Franken; G J M Janus
Journal:  Eur Spine J       Date:  2022-05-23       Impact factor: 2.721

Review 2.  The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases.

Authors:  Nan Wu; Bowen Liu; Huakang Du; Sen Zhao; Yaqi Li; Xi Cheng; Shengru Wang; Jiachen Lin; Junde Zhou; Guixing Qiu; Zhihong Wu; Jianguo Zhang
Journal:  Comput Struct Biotechnol J       Date:  2019-06-13       Impact factor: 7.271
  2 in total

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