ESPE Abstracts

Type II collagenopathy is a generic name of the skeletal dysplasia caused by COL2A1 gene, such as achondrogenesis type II, spondyloepiphyseal dysplasia (SEDC), spondyloepimetaphyseal dysplasia (SEMD). Since this is a rare disease, genotype-phenotype characteristics is still unclear. Here, we describe the genotype-phenotype characteristics of four families of type II collagenopathy in our hospital. Family 1: the proband was 2-year-old girl. She showed severe short stat...

Background: Fibroblast growth factor 23 (FGF23) decreases renal phosphate reabsorption and serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. X-linked hypophosphatemic rickets (XLH) is caused by mutations in the PHEX gene and accompanied by decreased serum inorganic phosphate (IP) and elevated serum FGF23 levels. Patients with XLH are generally treated with oral active vitamin D and phosphate, but some previous reports indicated that serum FGF23 levels increased with ...

Background: Allan-Herndon-Dudley syndrome (AHDS) is an x-linked mental retardation syndrome characterized by severe psychomotor retardation and pathognomonic thyroid parameters. Defects in monocarboxylate transporter 8 (MCT8), which facilitates thyroid hormone (TH) uptake and efflux across plasma membranes, have been linked to this disease. The incidence of undescended testes was reported to be 8% by Schwartz et al. On the other hand, we had the impression that cryptorchidism ...

Germline copy number variations (CNVs) can lead to rare diseases. Despite the widespread use of whole exome sequencing (WES), array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) remain the first-line methods for detecting CNVs in clinical genetics due to technical biases in WES. Recently, a new pipeline (GATK-gCNV) has been developed to account for these biases, allowing for the detection of high-resolution CNVs from WES d...