Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.

ABSTRACT:

Study design

A hypothesis-driven study was conducted in a familial cohort to determine the potential association between variants within the TBX6 gene and Familial Idiopathic Scoliosis (FIS).

Objective

To determine if variants within exons of the TBX6 gene segregate with the FIS phenotype within a sample of families with FIS.

Summary of background data

Idiopathic Scoliosis (IS) is a structural curvature of the spine whose underlying genetic etiology has not been established. IS has been reported to occur at a higher rate than expected in family members of individuals with congenital scoliosis (CS), suggesting that the two diseases might have a shared etiology. The TBX6 gene on chromosome 16p, essential to somite development, has been associated wi

SUBMITTER: Baschal EE 

PROVIDER: S-EPMC4480874 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature