MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations. Issue 2 (12th December 2013)

• Record Type: Journal Article
• Authors: Pecci, Alessandro; Klersy, Catherine; Gresele, Paolo; Lee, Kieran J.D.; De Rocco, Daniela; Bozzi, Valeria; Russo, Giovanna; Heller, Paula G.; Loffredo, Giuseppe; Ballmaier, Matthias; Fabris, Fabrizio; Beggiato, Eloise; Kahr, Walter H.A.; Pujol‐Moix, Nuria; Platokouki, Helen; Van Geet, Christel; Noris, Patrizia; Yerram, Preethi; Hermans, Cedric; Gerber, Bernhard; Economou, Marina; De Groot, Marco; Zieger, Barbara; De Candia, Erica; Fraticelli, Vincenzo; Kersseboom, Rogier; Piccoli, Giorgina B.; Zimmermann, Stefanie; Fierro, Tiziana; Glembotsky, Ana C.; Vianello, Fabrizio; Zaninetti, Carlo; Nicchia, Elena; Güthner, Christiane; Baronci, Carlo; Seri, Marco; Knight, Peter J.; Balduini, Carlo L.; Savoia, Anna;
• Is Part Of: Human mutation. Volume 35:Issue 2(2014:Feb.)
• Page Start: 236
• Page End: 247
• Publication Date: 2013-12-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22476
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22476-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>MYH9</italic>‐related disease (<italic>MYH9</italic>‐RD), the complex syndromic disorder deriving from mutations in <italic>MYH9</italic>, is characterized by a considerable variability in clinical evolution. This paper identifies significant genotype–phenotype correlations in the largest series of consecutive <italic>MYH9</italic>‐RD patients collected so far. These data allow us to predict the evolution of the disease associated to genotypes responsible for 85% of <italic>MYH9</italic>‐RD cases, providing an essential tool for patients' clinical management and genetic counseling and suggesting new mechanisms for molecular pathogenesis of the disease. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg407qd9qq" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>