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

ABSTRACT:

Introduction

Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important role in congenital scoliosis, but their role in idiopathic scoliosis has been largely unexplored.

Methods

Exome sequence data from 1197 AIS cases and 1664 in-house controls was analysed using coverage data to identify rare CNVs. CNV calls were filtered to include only highly confident CNVs with >10 average reads per region and mean log-ratio of coverage consistent with single-copy duplication or deletion. The frequency of 55 common recurrent CNVs was determined and correlated with clinical characteristics.

Results

Distal chromosome 16p11.2 microduplications containing the gene SH2B1 were found in 0.7% of

SUBMITTER: Sadler B 

PROVIDER: S-EPMC6592771 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature