Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.

ABSTRACT: Idiopathic scoliosis (IS) is a spinal disorder affecting up to 3% of otherwise healthy children. IS has a strong familial genetic component and is believed to be genetically complex due to significant variability in phenotype and heritability. Previous studies identified putative loci and variants possibly contributing to IS susceptibility, including within extracellular matrix, cilia, and actin networks, but the genetic architecture and underlying mechanisms remain unresolved. Here, we used whole-exome sequencing from three affected individuals in a multigenerational family with IS and identified 19 uncommon variants (minor allele frequency < 0.05). Genotyping of additional family members identified a candidate heterozygous variant (H1115Q, G>C, rs142032413) within the ciliary gene KIF7,

SUBMITTER: Terhune EA 

PROVIDER: S-EPMC8049985 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature