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Article

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

Scientific reports - 2 Jul 2020

Evans Daniel R, Green Jane S, Fahiminiya Somayyeh, Majewski Jacek, Fernandez Bridget A, Deardorff Matthew A, Johnson Gordon J, Whelan James H, Hubmacher Dirk, Apte Suneel S, Woods Michael O

Abstract excerpt

Weill-Marchesani syndrome (WMS) is a rare disorder displaying short stature, brachydactyly and joint stiffness, and ocular features including microspherophakia and ectopia lentis. Brachydactyly and joint stiffness appear less commonly in patients with WMS4 caused by pathogenic ADAMTS17 variants. Here, we investigated a large family with WMS from Newfoundland, Canada. These patients displayed core WMS features,...

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PMID: 32616716
DOI: 10.1038/s41598-020-66978-8
PMCID: PMC7331723

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