Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas

Abstract

Scoliosis represents the most common musculoskeletal disorder in children and affects approximately 3% of the world population. Scoliosis is separated into two major phenotypic classifications: congenital and idiopathic. Idiopathic scoliosis is defined as a curvature of the spine of 10° or greater visualized on plane radiograph and does not have associated vertebral malformations (VM). "Congenital" scoliosis (CS) due to malformations in vertebrae is frequently associated with other birth defects. Recently, significant advances have been made in understanding the genetic basis of both conditions. There is evidence that both conditions are etiologically related. A 2-day conference entitled "Genomic Approaches to Understanding and Treating Scoliosis" was held at Scottish Rite Hospital for Children in Dallas, Texas, to synergize research in this field. This first combined, multidisciplinary conference featured international scoliosis researchers in basic and clinical sciences. A major outcome of the conference advancing scoliosis research was the proposal and subsequent vote in favor of merging the International Consortium for Vertebral Anomalies and Scoliosis (ICVAS) and International Consortium for Scoliosis Genetics (ICSG) into a single entity called International Consortium for Spinal Genetics, Development, and Disease (ICSGDD). The ICSGDD is proposed to meet annually as a forum to synergize multidisciplinary spine deformity research.

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes

“…Several clinical features were analyzed in the present study (see section "Results"), and the Lenke classification was not adopted for subsequent analysis as it is a classification method to guide AIS treatment in humans. Five included clinical features were radiographic characteristics and partially following the suggestions of an annual meeting of the International Consortium for Spinal Genetics, Development, and Disease (ICSGDD) (Giampietro et al, 2018). The Cobb angle was the most commonly used clinical characteristic for assessing scoliosis severity.…”

MinION rapid sequencing: Review of potential applications in neurosurgery

“…Recent reports on intervertebral disc disease suggest that up to 75% of the underlying etiology is attributed to genes. [ 44 ] Other diseases of neurosurgical importance found to have a component of genetic etiology include gliomas,[ 9 48 ] schwannomas,[ 24 ] meningiomas,[ 12 ] intracranial aneurysms,[ 26 38 72 73 ] arteriovenous malformations,[ 19 ] cavernous malformations,[ 21 ] subarachnoid hemorrhage,[ 25 ] idiopathic scoliosis,[ 22 ] moya-moya disease,[ 27 ] hemorrhagic, and ischemic strokes. The results generated from these genome wide association (GWA) studies, revealing specific SNPs and their association with disease, are the stepping stones for better understanding of disease risk, prediction, treatment, and prognosis.…”

Congenital scoliosis: a narrative review and proposal of a treatment algorithm

“…CS has an incidence of 0.5–1/1000 births worldwide ( 3 , 4 , 5 , 6 , 7 ). However, many asymptomatic cases do not get diagnosed until a radiograph is taken which incidentally shows a congenital vertebral malformation (CVM) ( 7 ).…”