High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.

ABSTRACT:

Context

Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual.

Objective

To assess the frequency of pathogenic ACAN variants in selected individuals.

Design

The single-center cohort study was conducted at a tertiary university children's hospital. From 51 unrelated patients with ISS, the 16 probands aged between 3 and 18 years (12 females) with advanced bone age and/or autosomal dominant inheritance pattern of short stature were selected for the study. Fifteen family members of ACAN-positive probands were included. Exome sequencing was performed in all probands, and additional copy number variation (CNV) detection was applied in selected probands with a distinct ACAN-associated phenotype.

Results

Sys

SUBMITTER: Stavber L 

PROVIDER: S-EPMC7087498 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature