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

Brooke SadlerGabe HallerLilian AntunesXavier BledsoeJose MorcuendePhilip GiampietroCathleen RaggioNancy MillerYared KidaneCarol A WiseIna AmarilloNephi WaltonMark SeeleyDarren JohnsonConner JenkinsTroy JenkinsMatthew OetjensR Spencer TongTodd E DruleyMatthew B DobbsChristina A Gurnett

Published in: Journal of medical genetics (2019)

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 TBX6. Individuals with distal chromosome 16p11.2 microduplications should be screened for scoliosis to facilitate early treatment.

Keyphrases

minimally invasive
copy number
poor prognosis
genome wide
gene expression
transcription factor
combination therapy
genome wide identification