A novel pathogenic variant was identified in ADAMTS17 in a large family with Weill-Marchesani syndrome (WMS) from Newfoundland, Canada. We could show biochemically that the C1023Y variant prevented ADAMTS17 secretion, which was also described for other pathogenic ADAMTS17 variants and most likely results in a functional null allele.
“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease. For it has been found in almost all things, that what they contain of useful or of applicable nature, is hardly perceived unless we are deprived of them, or they become deranged in some way.”
-William Harvey (Physician-Scientist), 1578-1657