Short report Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy Giuseppe Limongelli a,b , Lorraine Hawkes a , Raffaele Calabro b , William J. McKenna a , Petros Syrris a, * a Department of Medicine, University College London and University College London Hospitals Trust, Cobbold Laboratories, 7th Floor, Jules Thorn Institute, Middlesex Hospital, 48 Riding House Street, London W1W 7EY, UK b Department of Cardiothoracic and Respiratory Sciences, Monaldi Hospital, Naples, Italy Available online 03 February 2006 Abstract Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encod- ing for sarcomeric proteins. Only 50–60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes. Noonan and LEOPARD syndromes are characterised by multi- ple dysmorphia and cardiac defects with HCM present in approximately 20% of cases. Both syndromes are caused by mutations in the PTPN11 gene which codes for the protein tyrosine phosphatase SHP-2. It is suspected but unproven that the cardiac phenotype may predominate or even be present in isolation. In order to determine possible involvement of this gene in the pathogenesis of HCM, we performed muta- tion screening of the PTPN11 coding region in 250 selected HCM probands (200 patients without muta- tions in sarcomeric genes and 50 with identified mutations). No mutations in PTPN11 were identified. Our data suggests that mutations in the PTPN11 gene are not a cause of HCM in the absence of Noo- nan/LEOPARD syndromes. © 2006 Elsevier Masson SAS. All rights reserved. Keywords: Hypertrophic cardiomyopathy (HCM); PTPN11; Mutations; Screening http://france.elsevier.com/direct/ejmg European Journal of Medical Genetics 49 (2006) 426–430 * Corresponding author. Tel.: +44 207 679 9191; fax: +44 207 419 6731. E-mail address: p.syrris@ucl.ac.uk (P. Syrris). 1769-7212/$ - see front matter © 2006 Elsevier Masson SAS. All rights reserved. doi:10.1016/j.ejmg.2006.01.003