Project description:Disproportionate short stature refers to a heterogeneous group of hereditary disorders, which are classified according to their mode of inheritance, their clinical skeletal and non-skeletal manifestations, and their radiological characteristics. In the present study, we report on a novel autosomal recessive osteocutaneous disorder that we termed short stature-onychodysplasia-facial dysmorphism-hypotrichosis (SOFT) syndrome. we identified a homozygous point mutation (p.L171P) in POC1A (Centriolar Protein Homolog A). The mutation affects a highly conserved amino acid residue and is predicted to interfere with protein function. To gain insight into the pathomechanisms underlying the deleterious effect of the causative mutation, we compared transcription profiles of patient and control fibroblasts.
Project description:Case series of children and adolescents undergoing growth hormone stimulation testing for investigation of short stature. The aim of this study was to identify whether a machine learning approach utilising gene expression data could predict which short children would test positive for GHD and which would not.
Project description:Werner Syndrome (WS) is an autosomal recessive disorder characterized by premature aging due to mutations of the WRN gene. A classical sign in WS patients is short stature, but the underlying mechanisms are not well understood. Here we report that WRN is indispensable for chondrogenesis, which is the engine driving the elongation of bones and determines height.
Project description:Idiopathic short stature is diagnosed by a standing height of less than two standard deviation scores in a specific population adjusted for age and gender and the exclusion of identifiable diseases. A series of studies have confirmed that noncoding RNAs can regulate the chondrocyte proliferation, hypertrophy, and endochondral ossification in the growth plate. In order to analyze and find differentially expressed circRNAs in Idiopathic short stature and healthy controls, we aimed to explore whether differentially expressed circRNAs in idiopathic short stature. Four pairs of blood samples were subjected to microarray analysis using the Arraystar Human CircRNAs Microarray v2 (Arraystar, USA). Compared to normal individuals, in ISS patients, the expression levels of 83 circRNAs were upregulated and those of 62 were downregulated.
