Distal chromosome 16p11.2 duplications containing <i>SH2B1</i> in patients with scoliosis

Abstract

Recurrent distal chromosome 16p11.2 duplications explain nearly 1% of AIS. Distal chromosome 16p11.2 duplications may contribute to scoliosis pathogenesis by directly impairing growth or by altering expression of nearby genes, such as <i>TBX6</i>. Individuals with distal chromosome 16p11.2 microduplications should be screened for scoliosis to facilitate early treatment.