Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.

ABSTRACT:

Purpose

ROR2, a member of the ROR family, is essential for skeletal development as a receptor of Wnt5a. The present study aims to investigate the mutational spectrum of ROR2 in children with short stature and to identify the underlying molecular mechanisms.

Methods

We retrospectively analyzed clinical phenotype and whole-exome sequencing (WES) data of 426 patients with short stature through mutation screening of ROR2. We subsequently examined the changes in protein expression and subcellular location in ROR2 caused by the mutations. The mRNA expression of downstream signaling molecules of the Wnt5a-ROR2 pathway was also examined.

Results

We identified 12 mutations in ROR2 in 21 patients, including 10 missense, one nonsense, and one frameshi

SUBMITTER: Gui B 

PROVIDER: S-EPMC8080376 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature