ESPE Yearbook of Paediatric Endocrinology

In Brief: These authors identify a frameshift truncating variant in the gene SPIN4 (Spindlin member 4) in a patient with skeletal overgrowth, hepatosplenomegaly and macrocephaly. Using state-of-the-art mouse models and histone peptide arrays, they delineate the underlying pathogenic mechanism and show that SPIN4 positively regulates Wnt signalling by functioning as an epigenetic reader.Commentary: Generalized overgrowth disorders are ch...

Abstract: Mol. Ther. 2019;27:673–680.In brief: The authors developed a fusion protein containing a cartilage-targeting antibody fragment and Insulin-like growth factor 1 (Igf1) and demonstrate that it can stimulate growth plate cartilage at lower and less frequent doses than Igf1. This is a novel approach that paves the way for the development of tissue-specific target...