Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

In this article, the authors test for enrichment of copy number variants (CNVs) at 55 well-characterized hotspots of recurrent copy number variation within a large cohort of isolated adolescent idiopathic scoliosis (AIS) patients. Of these 55 hotspots, only distal 16p11.2 duplications were enriched in AIS cases compared to control individuals. The authors replicated this finding in a second cohort of AIS patients and observed an increased rate of age-related scoliosis among 16p11.2 duplications carriers in a large population-based cohort. Together, the authors demonstrate a strong link between distal 16p11.2 duplications and scoliosis risk. (By Dr. Brooke Sadler, https://jmg.bmj.com/content/early/2019/02/25/jmedgenet-2018-105877 )

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