ESPE Abstracts

Objective: To explore the genotypes and phenotypes of 19 patients with ACAN variants presented as short stature with or without premature thelarche and abnormal intellectual development. Then the therapeutic response to recombinant human growth hormone (rhGH) and/or gonadotropin-releasing hormone agonist (GnRHa) were analysed.Methods: We reviewed clinical data of 19 patients with ACAN variants. Genetic ...

Background and Objective: The spliceosome-associated protein CWC27 (CWC27) is the main component of the spliceosome and plays an important role in the post-transcriptional modification of mRNA. Retinitis pigmentosa with or without skeletal abnormalities (RPSKA) is an autosomal recessive syndrome caused by variation in the CWC27 gene. The main clinical manifestations of RPSKA include short stature, retinitis pigmentosa, craniofacial deformity, and inte...

Background: CCCTC-binding factor (coded by CTCF gene, OMIM *604167), as a transcription insulation protein, plays a key role for regulating the temporal and spatial transcription of genes related to growth in mammals and topologically associated chromatin loop formation. Pathogenic variants in CTCF gene are associated with mental retardation, autosomal dominant 21 (MRD21, MIM #615502) with short stature, mild facial deformities, and mental re...