Disturbed Growth Signaling Linked to a Novel Disorder
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a global collaborative effort involving researchers from CENTOGENE, a specific signaling pathway could be linked to the observed growth defects. The findings were published in the American Journal of Human Genetics.