Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

Early-onset scoliosis (EOS), defined as clinical presentation of scoliosis before 10 years of age, can be associated with progressive pulmonary compromise and severe dysmorphic gross skeletal appearance if left untreated. In this study, Zhao et al. performed exome sequencing on a Chinese cohort of 447 patients with operative EOS and an US cohort of 13 patients with idiopathic EOS. They detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese EOS patients and one out of thirteen idiopathic EOS patients from the US cohort. The age at presentation, the number of organ systems involved, and the Cobb angle were the three top features predictive of a molecular diagnosis. (By Dr. Nan Wu, https://jmg.bmj.com/content/early/2020/05/07/jmedgenet-2019-106823 )

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