ESPE Abstracts

Background: Spondyloepimetaphyseal dysplasia with joint laxity type 1(SEMD-JL1) is a rare entity with a recessive inheritance. It is one of the genetic skeletal disorders (GSD) and B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from several families. However, there was no case described in China.Case report: An 8-year-old boy presented to our hospital with short stature, hyperlaxity w...

Introduction: Permanent neonatal diabetes mellitus (PNDM) is a rare disease which is defined as the onset of diabetes before the age of 6 months with persistence through life. Patients with KCNJ11 or ABCC8 gene mutations have the opportunity to switch to oral sulfonylurea therapy. There were limited studies about the genetic analysis and long-term follow-up of PNDM.Case report: We report four cases of this kind of PNDM, including their genetic mutations,...

This study aim ed to screen pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and to assess their clinical features. A total 87 patients from 8 medical centers in China were included in this study, and 70 patients underwent analysis of GNAS by next-generation sequencing and methylation-specific multiple ligati...