Article
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
Human molecular genetics - 15 Aug 2018
de Vos Ivo J H M, Tao Evelyn Yaqiong, Ong Sheena Li Ming, Goggi Julian L, Scerri Thomas, Wilson Gabrielle R, Low Chernis Guai Mun, Wong Arnette Shi Wei, Grussu Dominic, Stegmann Alexander P A, van Geel Michel, Janssen Renske, Amor David J, Bahlo Melanie, Dunn Norris R, Carney Thomas J, Lockhart Paul J, Coull Barry J, van Steensel Maurice A M
Abstract excerpt
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, we report a novel hypomorphic MMP14 p.Arg111His (R111H) allele, associated with a mitigated form of WS. Functional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.