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Genetics of the Growing Spine

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The Growing Spine

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Abstract

DNA is the blueprint of human life forms. Variations in DNA are the source of the phenotypic diversity in individuals as well as the hereditary diseases. With the advancement in the DNA sequencing technologies and the completion of the human genome project, we are able to detect various types of DNA variations in the genome, including single-nucleotide polymorphisms/variants, small insertions/deletions, and structural variations. The relationship between these genomic variations and the disease phenotypes has been explored based on different analytic strategies such as family-based and cohort-based. Basically, the former aims to detect the variations that are segregating with the disease phenotype within a family; The latter aims to identify the variations or the variations in genes that are enriched or recurrent in different patients, usually through a case–control approach. Early-onset scoliosis (EOS) is a clinical entity with extremely heterogeneous causes, which can be generally classified into congenital, neuromuscular, syndromic, and idiopathic scoliosis. A growing number of studies have demonstrated the important roles of genetic factors in EOS. Congenital scoliosis is caused by the impairment of somitogenesis during embryonic development. Neuromuscular scoliosis and syndromic scoliosis are often caused by genetic disorders affecting the neuromuscular system or the connective tissues. In contrast, idiopathic scoliosis represents a more complex subgroup of EOS, where polygenic and epigenetic factors have been suggestet. With international collaborations using well-defined and large sample size patient cohorts, genetic defects have been revealed in a large proportion of EOS patients and hopefully more in the future. Results from genetic studies of scoliosis could be translated into new guidelines/prediction models/therapies which help public health and clinical management of EOS patients.

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Authors and Affiliations

  1. Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China

    Nan Wu

  2. Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China

    Nan Wu

  3. Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College, Beijing, China

    Nan Wu

  4. Department of Orthopedic Surgery, Peking Union Medical College, Beijing, China

    Terry Jianguo Zhang

  5. Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College, Beijing, China

    Sen Zhao

  6. Department of Orthopaedics and Traumatology, Queen Mary Hospital, Hong Kong, China

    Kenneth M. C. Cheung

Authors
  1. Nan Wu
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  2. Terry Jianguo Zhang
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  3. Sen Zhao
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  4. Kenneth M. C. Cheung
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Corresponding author

Correspondence to Nan Wu .

Editor information

Editors and Affiliations

  1. Department of Orthopaedic Surgery, University of California, San Diego, San Diego, CA, USA

    Behrooz A. Akbarnia

  2. Rainbow Babies & Children’s Hospital, Case Western Reserve University, Cleveland, OH, USA

    George H. Thompson

  3. Department of Orthopedics and Traumatology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey

    Muharrem Yazici

  4. IWK Health Center, Dalhousie University, Halifax, NS, Canada

    Ron El-Hawary

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Wu, N., Zhang, T.J., Zhao, S., Cheung, K.M.C. (2022). Genetics of the Growing Spine. In: Akbarnia, B.A., Thompson, G.H., Yazici, M., El-Hawary, R. (eds) The Growing Spine. Springer, Cham. https://doi.org/10.1007/978-3-030-84393-9_2

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  • DOI: https://doi.org/10.1007/978-3-030-84393-9_2

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  • Print ISBN: 978-3-030-84392-2

  • Online ISBN: 978-3-030-84393-9

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