Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

• Format: eBook
• Language: English
• Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
• Subjects: Biology, life sciences; Genetics (non-medical); Research & information: general; adolescent idiopathic scoliosis; akinesia; Amyoplasia; arthrogryposis; bone; CHRNG; cilia; CNV; CNV (copy number variant); complex trait; congenital; congenital scoliosis; congenital vertebral malformation; contracture; copy number variant; curve severity; cytoskeleton; DA (distal arthrogryposis); DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources); differentially methylated region; discordant; distal arthrogryposis type 8; DNA methylation; epigenome-wide association study; Escobar; ESR1; estrogen receptor 1; exome sequencing; extracellular matrix; FGFR1 (Fibroblast growth factor receptor 1); genetic linkage study; genetic predisposition; genetic variations; genetics; genome wide association study; HPO (human phenotype ontology); idiopathic; idiopathic scoliosis; IGF2; IPA (ingenuity pathway analysis); model animal; monozygotic twin; multiple pterygium syndrome; musculoskeletal disease; MYH3; MYOD; n/a; POC5; polygenic; protein tyrosine kinase 7 (PTK7); pyrosequencing; scoliosis; scoliosis progression; spinal curvatures; spine; spine deformity; variants; whole exome sequencing
• Online Access: Open Access: DOAB: description of the publication; Open Access: DOAB, download the publication
• Physical Description: 1 online resource (172 p.)
• ISBN: 9783036559759; 9783036559766; books978-3-0365-5976-6
• Access: Open Access

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.