Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

• Main Authors: de Vos, Ivo J. H. M., Goggi, Julian L., Wilson, Gabrielle R., Stegmann, Alexander P. A., Amor, David J., Dunn, Norris Ray, Carney, Thomas James, Lockhart, Paul J., Coull, Barry J., van Steensel, Maurice A. M., Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Scerri, Thomas, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, van Geel, Michel, Janssen, Renske, Bahlo, Melanie
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2019
• Subjects: Alleles; Phenotype; Science::Medicine
• Online Access: https://hdl.handle.net/10356/87190; http://hdl.handle.net/10220/49880
• Institution: Nanyang Technological University

Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here...