Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

• Other Authors: Giampietro, Philip (Editor), Hadley-Miller, Nancy (Editor), Raggio, Cathy L. (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
• Subjects: Research & information: general; Biology, life sciences; Genetics (non-medical); 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; cilia; genetics; spine deformity; genetic predisposition; complex trait; model animal; genome wide association study; genetic linkage study; Amyoplasia; 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; monozygotic twin; epigenome-wide association study; bone; discordant; curve severity; differentially methylated region; congenital vertebral malformation; copy number variant; CNV; CHRNG; distal arthrogryposis type 8; Escobar; multiple pterygium syndrome; MYH3; protein tyrosine kinase 7 (PTK7); whole exome sequencing; n/a
• Online Access: DOAB: download the publication; DOAB: description of the publication

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.