A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.

ABSTRACT:

Context

Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated.

Objective

We sought to determine the prevalence of ACAN pathogenic variants among Chinese short stature children and characterize the phenotypic spectrum and their responses to growth hormone therapies.

Patients and methods

Over 1000 unrelated short stature patients ascertained across China were genetically evaluated by next-generation sequencing-based test.

Result

We identified 10 novel likely pathogenic variants and 2 recurrent

SUBMITTER: Lin L 

PROVIDER: S-EPMC8208663 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature