MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations (pages 236–247)
Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter H.A. Kahr, Nuria Pujol-Moix, Helen Platokouki, Christel Van Geet, Patrizia Noris, Preethi Yerram, Cedric Hermans, Bernhard Gerber, Marina Economou, Marco De Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina B. Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini and Anna Savoia
Article first published online: 12 DEC 2013 | DOI: 10.1002/humu.22476
MYH9-related disease (MYH9-RD), the complex syndromic disorder deriving from mutations in MYH9, is characterized by a considerable variability in clinical evolution. This paper identifies significant genotype–phenotype correlations in the largest series of consecutive MYH9-RD patients collected so far. These data allow us to predict the evolution of the disease associated to genotypes responsible for 85% of MYH9-RD cases, providing an essential tool for patients' clinical management and genetic counseling and suggesting new mechanisms for molecular pathogenesis of the disease.