Heterozygous Variants in Idiopathic Short Stature.

Heterozygous variants in the gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2-6% cases of idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aimed to assess the frequency of variants in our study cohort consisting of 150 children and adolescents with ISS, describe the phenotypic spectrum with a growth pattern including birth data, and study the response to growth hormone (GH) treatment. A total of ten heterozygous pathogenic/likely pathogenic variants and two heterozygous variants of uncertain significance were detected in twelve participants (frequency of causal variants: 10/150, 6.