Genetic Conditions Affecting the Skeleton

Congenital, Idiopathic Scoliosis and Arthrogryposis

Edited by
January 2023
172 pages
  • ISBN978-3-0365-5975-9 (Hardback)
  • ISBN978-3-0365-5976-6 (PDF)

This book is a reprint of the Special Issue Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis that was published in

Biology & Life Sciences

In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.

  • Hardback
License and Copyright
© 2022 by the authors; CC BY-NC-ND license
spinal curvatures; scoliosis; idiopathic; DNA methylation; pyrosequencing; estrogen receptor 1; ESR1; scoliosis progression; adolescent idiopathic scoliosis; idiopathic scoliosis; exome sequencing; spine; polygenic; variants; musculoskeletal disease; cytoskeleton; extracellular matrix; contracture; arthrogryposis; congenital; POC5; adolescent idiopathic scoliosis; cilia; genetics; spine deformity; idiopathic scoliosis; genetic predisposition; complex trait; model animal; genome wide association study; genetic linkage study; Amyoplasia; scoliosis; DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources); CNV (copy number variant); DA (distal arthrogryposis); IPA (ingenuity pathway analysis); HPO (human phenotype ontology); akinesia; MYOD; IGF2; FGFR1 (Fibroblast growth factor receptor 1); genetic variations; congenital scoliosis; idiopathic scoliosis; monozygotic twin; epigenome-wide association study; DNA methylation; bone; discordant; curve severity; differentially methylated region; congenital scoliosis; congenital vertebral malformation; copy number variant; CNV; CHRNG; distal arthrogryposis type 8; Escobar; multiple pterygium syndrome; MYH3; scoliosis; protein tyrosine kinase 7 (PTK7); congenital scoliosis; adolescent idiopathic scoliosis; whole exome sequencing; n/a

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