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.

Detection of Del/Dup Inside /PAR1 Region in Children and Young Adults with Idiopathic Short Stature.

Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene () and is considered to be responsible for 2-15% of ISS.

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Background: The majority of small supernumerary marker chromosome cases arise and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic sSMC that originated from the pericentric region of q arm in chromosome 17.